4,542 results match your criteria Corpus Callosum Agenesis


Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: a systematic review and meta-analysis.

Acta Obstet Gynecol Scand 2020 Jul 11. Epub 2020 Jul 11.

Center for Fetal Care and High-risk Pregnancy, Department of Obstetrics and Gynecology, University Hospital of Chieti, Chieti, Italy.

Introduction: Corpus callosum agenesis (ACC) is frequently diagnosed during fetal life; its prognosis depends also on additional anomalies. The additional value of fetal magnetic resonance imaging (MRI) in fetuses with 'isolated' complete (cACC) and partial (pACC) agenesis of the corpus callosum on ultrasound is still debated.

Material And Methods: We performed a systematic literature review and meta-analysis including fetuses with a prenatal diagnosis of cACC and pACC without associated structural anomalies on ultrasound, undergoing fetal MRI. Read More

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http://dx.doi.org/10.1111/aogs.13958DOI Listing

Corpus callosotomy for refractory epilepsy in Aicardi syndrome: a case report and focused review of the literature.

World Neurosurg 2020 Jul 8. Epub 2020 Jul 8.

Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

Aicardi syndrome is a severe neurodevelopmental disorder that occurs primarily in females and is characterized by seizures, agenesis of the corpus callosum, and chorioretinal lacunae, which occur together in the majority of affected individuals. Seizures begin in infancy and tend to progress in intensity and are often refractory to standard multimodal medication treatments. We present here a unique case of a 12-year old girl with partial agenesis of the corpus callosum who underwent a corpus callosotomy for treatment of medically refractory epilepsy. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.06.230DOI Listing

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.

Neuropediatrics 2020 Jul 3. Epub 2020 Jul 3.

Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.

Objective:  This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis.

Methods:  The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis-dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. Read More

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http://dx.doi.org/10.1055/s-0040-1710528DOI Listing

Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis.

J Ultrasound Med 2020 Jun 29. Epub 2020 Jun 29.

University of California, San Diego, Maternal-Fetal Care and Genetics (M.P., L.L.-S., V.M.F., M.H., G.A.R., M.J., D.H.P.), USA.

Objectives: We hypothesized that: (1) fetal frontal horn (FH) morphology and their proximity to the cavum septi pellucidi (CSP) can assist in suspecting complete agenesis of the corpus callosum (cACC) and partial agenesis of the corpus callosum (pACC) earlier than known indirect ultrasound (US) findings; (2) FHs assist in differentiating a true CSP from a pseudocavum; and (3) magnetic resonance imaging (MRI) is useful in learning FH morphology and pseudocavum etiology.

Methods: Thirty-two patients with cACC and 9 with pACC were identified on an Institutional Review Board-approved retrospective review. Of the 41 cases, 40 had prenatal US, and 21 had prenatal MRI; 17 had follow-up neonatal US, and 14 had follow-up neonatal MRI. Read More

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http://dx.doi.org/10.1002/jum.15348DOI Listing

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

J Med Genet 2020 Jun 26. Epub 2020 Jun 26.

Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands.

Introduction: Pathogenic DNA variants in the GLI-Kruppel family member 3 ( gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the correlation between reported limb anomalies and the reported variants in these GLI3-mediated polydactyly syndromes. Read More

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http://dx.doi.org/10.1136/jmedgenet-2020-106948DOI Listing

Incidental Massive Hydrocephalus Associated With an Unruptured Choroid Plexus Arteriovenous Malformation and Complete Agenesis of the Corpus Callosum Found in an Adult at Autopsy.

Am J Forensic Med Pathol 2020 Jun 20. Epub 2020 Jun 20.

Wayne County Medical Examiner's Office, Michigan Medicine/University of Michigan.

Undiagnosed significant hydrocephalus is an uncommon finding at forensic autopsy as many cases present in life with complex neurological symptoms. We present a case of a 46-year-old man with no neurological deficits or history of head trauma that was incidentally found to have a massive hydrocephalus at autopsy. This was found to be associated with an unruptured arteriovenous malformation completely confined to the choroid plexus as well as complete agenesis of the corpus callosum. Read More

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http://dx.doi.org/10.1097/PAF.0000000000000562DOI Listing

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Genet Med 2020 Jun 22. Epub 2020 Jun 22.

UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France.

Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).

Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Read More

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http://dx.doi.org/10.1038/s41436-020-0872-8DOI Listing

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

Turk J Pediatr 2020 ;62(3):474-478

Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.

Background: Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.

Case: Here we report two Turkish patients with Vici syndrome. Read More

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http://dx.doi.org/10.24953/turkjped.2020.03.015DOI Listing
January 2020

Corpus Callosum Lipomas in Children.

Turk Neurosurg 2019 Dec 31. Epub 2019 Dec 31.

Tatvan State Hospital, Department of Neurosurgery, Bitlis.

Aim: Pericallosal lipomas (PCL) are congenital, benign, fat-containing brain malformations, which are closely related to the development of the primitive meninges and corpus callosum (CC).This study aimed to determine the clinical and radiographical aspects of six patients diagnosed with PCL.

Material And Methods: A retrospective analysis of patients who presented to the neurosurgery outpatient clinics of Selcuk Faculty of Medicine between 2009 and 2019 revealed that six patients were diagnosed with PCL. Read More

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http://dx.doi.org/10.5137/1019-5149.JTN.27692-19.6DOI Listing
December 2019

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.

Mol Genet Genomic Med 2020 Jun 10:e1336. Epub 2020 Jun 10.

Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

Background: Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. Read More

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http://dx.doi.org/10.1002/mgg3.1336DOI Listing

Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters.

Cell Physiol Biochem 2020 Jun;54(4):577-590

Department of Anesthesiology and Neuroscience Graduate Program, Vanderbilt University School of Medicine, Nashville, TN, USA,

Background/aims: Loss-of-Function (LOF) of the potassium chloride cotransporter 3 (KCC3) results in hereditary sensorimotor neuropathy with Agenesis of the Corpus Callosum (HSMN/ACC). Our KCC3 knockout mouse recapitulated axonal swelling and tissue vacuolization observed in autopsies of individuals with HSMN/ACC. We previously documented the first human case of a KCC3 gain-of-function (GOF) in which the patient also exhibited severe peripheral neuropathy. Read More

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http://dx.doi.org/10.33594/000000241DOI Listing

Improved prognostication in isolated callosal agenesis: fetal magnetic resonance imaging-based scoring system.

Ultrasound Obstet Gynecol 2020 Jun 2. Epub 2020 Jun 2.

Department of Radiology, Division of Neuro- and Musculoskeletal Radiology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.

Background: Corpus callosum agenesis (CCA) is one of the most common brain malformations, generally associated with a good outcome when isolated. However, up to 25% of patients are at risk for neurodevelopmental delay, which currently available clinical and imaging parameters are insufficient to predict.

Objective: To apply and validate a fetal MRI anatomical score in an isolated corpus callosal agenesis cohort and evaluate correlation with postnatal neurodevelopmental outcome. Read More

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http://dx.doi.org/10.1002/uog.22102DOI Listing

Discovering candidate imprinted genes and imprinting control regions in the human genome.

Authors:
Minou Bina

BMC Genomics 2020 May 31;21(1):378. Epub 2020 May 31.

Department of Chemistry, Purdue University, 560 Oval Dr., West Lafayette, IN, 47907, USA.

Background: Genomic imprinting is a process thereby a subset of genes is expressed in a parent-of-origin specific manner. This evolutionary novelty is restricted to mammals and controlled by genomic DNA segments known as Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs). Previously, I showed that in the mouse genome, the fully characterized ICRs/gDMRs often includes clusters of 2 or more of a set of composite-DNA-elements known as ZFBS-morph overlaps. Read More

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http://dx.doi.org/10.1186/s12864-020-6688-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7262774PMC

Bi-allelic variants cause delayed developmental milestones and intellectual disability.

J Med Genet 2020 May 21. Epub 2020 May 21.

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States

Background: Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated consanguineous families.

Methods: Clinical analyses were performed for eight patients with intellectual disability (ID). Read More

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http://dx.doi.org/10.1136/jmedgenet-2020-106849DOI Listing

L1CAM mutations in three fetuses diagnosed by medical exome sequencing.

Taiwan J Obstet Gynecol 2020 May;59(3):451-455

Department of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China; Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, 510150, China; The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, 510150, China; Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, 510150, China. Electronic address:

Objective: The L1 cell adhesion molecule (L1CAM) gene, encodes the L1 cell adhesion molecule, is involved in the central nervous system development. Its mutations result in L1 syndrome which is associated with brain malformation and nervous developmental delay.

Case Report: We presented three fetuses with hydrocephalus and agenesis of the corpus callosum detected by ultrasound, followed by medical exome sequencing (MES) test with L1CAM mutations: two known missense mutation c. Read More

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http://dx.doi.org/10.1016/j.tjog.2020.03.022DOI Listing

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.

Nat Commun 2020 May 15;11(1):2441. Epub 2020 May 15.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations, including corpus callosum agenesis (ACC) and microcephaly. We demonstrate, in vivo, that the expression of KIF21B missense variants specifically recapitulates patients' neurodevelopmental abnormalities, including microcephaly and reduced intra- and inter-hemispheric connectivity. Read More

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http://dx.doi.org/10.1038/s41467-020-16294-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229210PMC

Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

Cerebellum 2020 Aug;19(4):569-582

Department of Pediatric Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders with reduced volume of pons and cerebellum. The term is purely descriptive and does not imply a genetic progressive disease. Currently (as of Jan 01, 2020), 13 different types are listed in OMIM (Online Mendelian Inheritance in Man), associated with 19 different genes. Read More

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http://dx.doi.org/10.1007/s12311-020-01135-5DOI Listing

Klinefelter Syndrome and Corpus Callosum Agenesis.

Indian J Pediatr 2020 May 8. Epub 2020 May 8.

Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, 249203, India.

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http://dx.doi.org/10.1007/s12098-020-03313-zDOI Listing
May 2020
0.919 Impact Factor

Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum.

Neuroimage 2020 Aug 29;217:116868. Epub 2020 Apr 29.

Queensland Brain Institute, The University of Queensland, St. Lucia, Brisbane, Australia; School of Biomedical Sciences, The University of Queensland, St. Lucia, Brisbane, Australia. Electronic address:

Corpus callosum dysgenesis (CCD) describes a collection of brain malformations in which the main fiber tract connecting the two hemispheres is either absent (complete CCD, or 'agenesis of the corpus callosum') or reduced in size (partial CCD). Humans with these neurodevelopmental disorders have a wide range of cognitive outcomes, including seemingly preserved features of interhemispheric communication in some cases. However, the structural substrates that could underlie this variability in outcome remain to be fully elucidated. Read More

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http://dx.doi.org/10.1016/j.neuroimage.2020.116868DOI Listing

[Clinical features and genetic analysis of a fetus with holoprosencephaly].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):547-550

Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.

Objective: To analyze the clinical features and pathogenesis of a fetus with holoprosencephaly.

Methods: The findings of prenatal ultrasonography was reviewed. Following elective abortion, whole exome sequencing (WES) was carried out to identify potential pathogenic variant. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.013DOI Listing

First report of tethered cord syndrome in a patient with Sotos syndrome.

BMC Pediatr 2020 Apr 24;20(1):183. Epub 2020 Apr 24.

Division of Pediatric Neurosurgery, Gazi University Faculty of Medicine, Gazi Üniversitesi. Beyin ve Sinir Cerrahisi. C blok. 1 Kat., Yenimahalle, 06760, Ankara, Turkey.

Background: Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. The Sotos syndrome was first described by Juan Sotos. Cole and Hughes identified the clinical characteristics of this syndrome. Read More

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http://dx.doi.org/10.1186/s12887-020-02068-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181482PMC

The neuroimaging findings of monocarboxylate transporter 1 deficiency.

Neuroradiology 2020 Jul 21;62(7):891-894. Epub 2020 Apr 21.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Al Zahrawi Street, Riyadh, 11211, Saudi Arabia.

Monocarboxylate transporter 1 (MCT1) deficiency was first described in 2014 by Hasselt et al. as a novel genetic cause of recurrent ketoacidosis. Patients present in the first year of life with acute episodes of ketoacidosis triggered by fasting or infections. Read More

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http://dx.doi.org/10.1007/s00234-020-02435-7DOI Listing
July 2020
2.485 Impact Factor

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Am J Med Genet A 2020 06 8;182(6):1407-1420. Epub 2020 Apr 8.

Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.

PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consanguineous Egyptian families with the distinctive clinical features of MOPD II in whom a customized NGS panel showed homozygous truncating variants of PCNT. The NGS panel results were validated thereafter using Sanger sequencing revealing three previously reported and three novel PCNT pathogenic variants. Read More

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http://dx.doi.org/10.1002/ajmg.a.61585DOI Listing
June 2020
2.159 Impact Factor

Application of prenatal ultrasonography and magnetic resonance imaging on fetal agenesis of corpus callosum.

Ginekol Pol 2020 ;91(3):132-136

Department of Medical imageology, City Central Maternal and Child Health Hospital of Leshan, China.

Objectives: To evaluate the diagnostic value and clinical application of prenatal ultrasonography (US) and Magnetic Resonance Imaging (MRI) for different types of fetal Agenesis of the Corpus Callosum (ACC).

Material And Methods: There were 42 cases of fetal ACC discovered by routine US, including complete ACC 18 cases and partial ACC 24 cases, checked by MRI within 1 week. The results were confirmed by head ultrasound after birth or brain biopsy after labor induction. Read More

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http://dx.doi.org/10.5603/GP.2020.0029DOI Listing
January 2020

MT1-MMP deficiency leads to defective ependymal cell maturation, impaired ciliogenesis, and hydrocephalus.

JCI Insight 2020 May 7;5(9). Epub 2020 May 7.

School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.

Hydrocephalus is characterized by abnormal accumulation of cerebrospinal fluid (CSF) in the ventricular cavity. The circulation of CSF in brain ventricles is controlled by the coordinated beating of motile cilia at the surface of ependymal cells (ECs). Here, we show that MT1-MMP is highly expressed in olfactory bulb, rostral migratory stream, and the ventricular system. Read More

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http://dx.doi.org/10.1172/jci.insight.132782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253023PMC

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.

Cytogenet Genome Res 2020 11;160(3):124-133. Epub 2020 Mar 11.

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. Read More

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http://dx.doi.org/10.1159/000506430DOI Listing

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

Eur J Paediatr Neurol 2020 May 4;26:46-60. Epub 2020 Mar 4.

Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Objective: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome.

Methods: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2020.03.001DOI Listing

First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift Mutation.

Ann Clin Lab Sci 2020 Jan;50(1):140-145

Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea

Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites. While mutations account for a third of all CSS cases, the condition's phenotypic features vary widely. Read More

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January 2020

Cancer treatment in disabled children.

Eur J Pediatr 2020 Mar 5. Epub 2020 Mar 5.

Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via G. Venezian, 1, 20133, Milan, MI, Italy.

The incidence of cancer in children with intellectual disability has been poorly documented. We report our experience of treating children and adolescents with cancer and intellectual disability (40 patients), from 2004 to 2018. A treatment-sparing approach was adopted for 6 patients with severe intellectual impairment to minimize toxicity: a child with postpartum asphyxia and medulloblastoma did not receive radiotherapy; 1 patient with mitochondrial encephalopathy and a testicular germ cell tumor did not receive bleomycin and lung metastasectomy; 2 patients (1 with Down + West syndrome + Wilms tumor (WT) and 1 with Denys-Drash syndrome + WT) did not receive vincristine; 1 child with corpus callosum agenesis and anaplastic ependymoma did not receive chemotherapy; 1 child with structural chromosomal aberrations and a primitive neuro-ectodermal tumor received personalized chemotherapy. Read More

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http://dx.doi.org/10.1007/s00431-020-03607-6DOI Listing

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Am J Med Genet A 2020 05 3;182(5):1073-1083. Epub 2020 Mar 3.

Laboratory of Medical Genetics, Medical Genetics, Rare Diseases, Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

KBG syndrome (MIM #148050) is an autosomal dominant disorder characterized by developmental delay, intellectual disability, distinct craniofacial anomalies, macrodontia of permanent upper central incisors, skeletal abnormalities, and short stature. This study describes clinical features of 28 patients, confirmed by molecular testing of ANKRD11 gene, and three patients with 16q24 deletion encompassing ANKRD11 gene, diagnosed in a single center. Common clinical features are reported, together with uncommon findings, clinical expression in the first years of age, distinctive associations, and familial recurrences. Read More

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http://dx.doi.org/10.1002/ajmg.a.61524DOI Listing

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Int J Mol Sci 2020 Feb 18;21(4). Epub 2020 Feb 18.

Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS 00146 Rome, Italy.

Tubulinopathies are rare neurological disorders caused by alterations in tubulin structure and function, giving rise to a wide range of brain abnormalities involving neuronal proliferation, migration, differentiation and axon guidance. TUBB is one of the ten β-tubulin encoding genes present in the human genome and is broadly expressed in the developing central nervous system and the skin. Mutations in TUBB are responsible for two distinct pathological conditions: the first is characterized by microcephaly and complex structural brain malformations and the second, also known as "circumferential skin creases Kunze type" (CSC-KT), is associated to neurological features, excess skin folding and growth retardation. Read More

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http://dx.doi.org/10.3390/ijms21041385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073044PMC
February 2020
2.862 Impact Factor

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Dev Med Child Neurol 2020 Jun 14;62(6):758-762. Epub 2020 Feb 14.

School of Psychology, The University of Queensland, St Lucia, Brisbane, Australia.

Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8-50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Read More

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http://dx.doi.org/10.1111/dmcn.14486DOI Listing
June 2020
3.510 Impact Factor

Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature.

J Med Case Rep 2020 Feb 12;14(1):28. Epub 2020 Feb 12.

Department of Neurosurgery, Centro Especializado en Neurocirugía y Neurociencias México (CENNM), Tlaxcala & Manzanillo, Roma Sur, 06760, Mexico City, Mexico.

Background: Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations may occur as the cognitive demand increases with age. Read More

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http://dx.doi.org/10.1186/s13256-020-2359-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014647PMC
February 2020

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Am J Med Genet A 2020 05 7;182(5):962-973. Epub 2020 Feb 7.

Department of Pediatrics, Columbia University, New York, New York.

CDC42BPB encodes MRCKβ (myotonic dystrophy-related Cdc42-binding kinase beta), a serine/threonine protein kinase, and a downstream effector of CDC42, which has recently been associated with Takenouchi-Kosaki syndrome, an autosomal dominant neurodevelopmental disorder. We identified 12 heterozygous predicted deleterious variants in CDC42BPB (9 missense, 2 frameshift, and 1 nonsense) in 14 unrelated individuals (confirmed de novo in 11/14) with neurodevelopmental disorders including developmental delay/intellectual disability, autism, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis/hypoplasia of the corpus callosum. The frameshift and nonsense variants in CDC42BPB are expected to be gene-disrupting and lead to haploinsufficiency via nonsense-mediated decay. Read More

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http://dx.doi.org/10.1002/ajmg.a.61505DOI Listing

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

Am J Med Genet A 2020 05 5;182(5):1223-1229. Epub 2020 Feb 5.

Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p. Read More

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http://dx.doi.org/10.1002/ajmg.a.61506DOI Listing

Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results.

Turk J Pediatr 2019 ;61(4):525-537

Department of Radiology, Bursa Special Radiological Diagnostic Center, Bursa, Turkey.

Ali A, Yalçın R, Ünlüer-Gümüştaş A. Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results. Turk J Pediatr 2019; 61: 525-537. Read More

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http://dx.doi.org/10.24953/turkjped.2019.04.009DOI Listing

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.

Mol Genet Genomic Med 2020 Apr 28;8(4):e1135. Epub 2020 Jan 28.

Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

Background: Interstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and the genomic region involved.

Method And Results: We describe a preterm male harboring a novel interstitial deletion encompassing the 2q21. Read More

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http://dx.doi.org/10.1002/mgg3.1135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196451PMC

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling.

Hum Mutat 2020 May 3;41(5):1012-1024. Epub 2020 Mar 3.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Haploinsufficiency of ARID1B (AT-rich interaction domain 1B) has been involved in autism spectrum disorder, nonsyndromic and syndromic intellectual disability, and corpus callosum agenesis. Growth impairment is a major clinical feature caused by ARID1B mutations; however, the mechanistic link has not been elucidated. Here, we confirm that growth delay is a common characteristic of patients with ARID1B mutations, which may be associated with dysregulation of the Wnt/β-catenin signaling pathway. Read More

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http://dx.doi.org/10.1002/humu.23990DOI Listing

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

Case Rep Genet 2019 28;2019:7250838. Epub 2019 Dec 28.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called "dynamic mosaicism", phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Read More

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http://dx.doi.org/10.1155/2019/7250838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949681PMC
December 2019

An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

Neurol Sci 2020 Jun 22;41(6):1521-1529. Epub 2020 Jan 22.

Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, 38039, Melikgazi, Kayseri, Turkey.

Background: Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS).

Objective: The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. Read More

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http://dx.doi.org/10.1007/s10072-019-04224-4DOI Listing

Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a Novel Mutation.

Case Rep Ophthalmol 2019 Sep-Dec;10(3):424-430. Epub 2019 Dec 17.

Department of Medicine - Ophthalmology, University of Udine, Udine, Italy.

We report the case of a girl with a novel mutation of the gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. , located on chromosome 13, encodes the α1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Read More

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http://dx.doi.org/10.1159/000505017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959118PMC
December 2019

Cervicothoracic Spinal Dysraphism: Unravelling the Pandora's Box.

J Pediatr Neurosci 2019 Oct-Dec;14(4):203-210. Epub 2019 Dec 3.

Department of Neurosurgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGI), Lucknow, Uttar Pradesh, India.

Introduction: Cervicothoracic spinal dysraphism (CTSD) is relatively rare with reported incidence of 1%-6.5%. The entity has a separate spectrum of associations with other anomaly such as split cord malformation, Chiari malformation, and corpus callosum agenesis as compared with its lumbosacral counterpart. Read More

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http://dx.doi.org/10.4103/jpn.JPN_28_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935989PMC
December 2019

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and through international research collaboration, we identified twelve individuals with de novo loss-of-function (LoF) variants in protein phosphatase 1, regulatory subunit 12a (PPP1R12A), an important developmental gene involved in cell migration, adhesion, and morphogenesis. This gene has not been previously reported in association with human disease, and it has intolerance to LoF as illustrated by a very low observed-to-expected ratio of LoF variants in gnomAD. Of the twelve individuals, midline brain malformations were found in five, urogenital anomalies in nine, and a combination of both phenotypes in two. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042489PMC
January 2020

Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature.

J Int Adv Otol 2019 Dec;15(3):364-367

Department of Otorhinolaryngology Head-Neck Surgery, Cukurova University School of Medicine, Adana, Turkey.

Objectives: The aim of the present study was to analyze the outcomes of cochlear implantation (CI) in patients with agenesis of the corpus callosum (CCA). A literature review and a retrospective analysis of our cochlear implant database were performed.

Materials And Methods: To the best of our knowledge, in the English literature, there was only one case reported with CCA who had undergone CI surgery. Read More

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http://dx.doi.org/10.5152/iao.2019.6577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937170PMC
December 2019

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Neurobiol Dis 2020 03 14;136:104709. Epub 2019 Dec 14.

Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address:

Corpus callosum agenesis (CCA) is a brain malformation associated with a wide clinical spectrum including intellectual disability (ID) and an etiopathological complexity. We identified a novel missense G424R mutation in the X-linked p21-activated kinase 3 (PAK3) gene in a boy presenting with severe ID, microcephaly and CCA and his fetal sibling with CCA and severe hydrocephaly. PAK3 kinase is known to control synaptic plasticity and dendritic spine dynamics but its implication is less characterized in brain ontogenesis. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.104709DOI Listing

Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls.

Alcohol Clin Exp Res 2020 02 2;44(2):455-462. Epub 2020 Jan 2.

Department of Radiology and Diagnostic Imaging, (DJ, DE), Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Background: Fetal alcohol spectrum disorders (FASD) describe a range of physical, behavioral, and cognitive impairments stemming from prenatal alcohol exposure (PAE). Although case studies have demonstrated striking visible brain abnormalities in humans (enlargement of the lateral ventricles, thinning or absence of the corpus callosum, etc.), few studies have systematically determined how these radiological findings generalize to the wider population of individuals living with FASD. Read More

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http://dx.doi.org/10.1111/acer.14263DOI Listing
February 2020

Septo-optic dysplasia with amniotic band syndrome sequence: a case report.

J Med Case Rep 2019 Dec 16;13(1):370. Epub 2019 Dec 16.

Department of Paediatric and Child Health, School of Medicine, Muhimbili University of Health and Allied Sciences, PO Box 65001, Dar es Salaam, Tanzania.

Introduction: De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad. Read More

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http://dx.doi.org/10.1186/s13256-019-2306-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913001PMC
December 2019

Whole-Exome Sequencing Revealed Mutations of and in Fetal Agenesis of the Corpus Callosum.

Front Genet 2019 25;10:1201. Epub 2019 Nov 25.

Department of Obstetrics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common. Etiologies of ACC include chromosome errors, genetic factors, prenatal infections, and other factors related to the prenatal environment. Read More

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http://dx.doi.org/10.3389/fgene.2019.01201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886535PMC
November 2019

A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.

Am J Med Genet A 2020 02 10;182(2):289-292. Epub 2019 Dec 10.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, Maryland.

Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele. This condition is associated with loss-of-function mutations in the LRP2 gene. Few cases have been described in the literature. Read More

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http://dx.doi.org/10.1002/ajmg.a.61428DOI Listing
February 2020