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    8045 results match your criteria American Journal of Medical Genetics Part A[Journal]

    1 OF 161

    Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
    Am J Med Genet A 2018 Feb 20. Epub 2018 Feb 20.
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
    In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. Read More

    Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results.
    Am J Med Genet A 2018 Mar;176(3):578-588
    Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
    Clinical genome and exome sequencing (CGES) may identify variants leading to targeted management of existing conditions. Yet, CGES often fails to identify pathogenic diagnostic variants and introduces uncertainties by detecting variants of uncertain significance (VUS) and secondary findings. This study investigated how families understand findings and adjust their perspectives on CGES. Read More

    Cover Image, Volume 176A, Number 3, March 2018.
    Am J Med Genet A 2018 Mar;176(3)
    Department of Neonatology, NHO Okayama Medical Center, Okayama, Japan.
    The cover image, by Kei Tamai et al., is based on the Clinical Report Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome, DOI: 10.1002/ajmg. Read More

    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
    Am J Med Genet A 2018 Feb 15. Epub 2018 Feb 15.
    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. Read More

    Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review.
    Am J Med Genet A 2018 Feb 13. Epub 2018 Feb 13.
    Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.
    Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 15 with the majority of individuals having the 15q11-q13 region deleted. Examples of familial PWS have been reported but rarely. Read More

    Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
    Am J Med Genet A 2018 Feb 13. Epub 2018 Feb 13.
    Department of Pediatrics and Medicine, Columbia University, New York, New York.
    SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Read More

    A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
    Am J Med Genet A 2018 Feb 13. Epub 2018 Feb 13.
    Center for Craniofacial Research, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas.
    Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Read More

    A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
    Am J Med Genet A 2018 Feb 12. Epub 2018 Feb 12.
    Department of Pediatrics, McGill University, Montreal, Canada.
    Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype. Read More

    Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.
    Am J Med Genet A 2018 Feb 10. Epub 2018 Feb 10.
    Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
    Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Read More

    ICD-10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system.
    Am J Med Genet A 2018 Feb 9. Epub 2018 Feb 9.
    Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
    We compared Brazilian oral cleft (OC) frequencies between the population-based Brazilian System of Live Birth (SINASC) and the hospital-based Latin American Collaborative Study of Congenital Malformations (ECLAMC), trying to understand the paucity of cleft of lip and palate (CLP) in the first system. SINASC uses the International Classification of Disease version 10 (ICD-10) for congenital defects coding, ECLAMC uses ICD-8 with modifications. In SINASC, the CLP frequency was 1. Read More

    Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.
    Am J Med Genet A 2018 Feb 9. Epub 2018 Feb 9.
    Growth and Development, Pediatric Garrahan Hospital, Buenos Aires, Argentina.
    Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length ratio, sitting height/height ratio, and head circumference/height ratio were estimated by the LMS method. Read More

    The art and science of choosing efficacy endpoints for rare disease clinical trials.
    Am J Med Genet A 2018 Feb 9. Epub 2018 Feb 9.
    Editas Medicine, Cambridge, Massachusetts.
    An important challenge in rare disease clinical trials is to demonstrate a clinically meaningful and statistically significant response to treatment. Selecting the most appropriate and sensitive efficacy endpoints for a treatment trial is part art and part science. The types of endpoints should align with the stage of development (e. Read More

    Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
    Am J Med Genet A 2018 Feb 9. Epub 2018 Feb 9.
    Baylor Genetics Laboratories, Houston, Texas.
    SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. Read More

    International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences.
    Am J Med Genet A 2018 Feb 9. Epub 2018 Feb 9.
    Leiden University, Rapenburg, Leiden, Netherlands.
    47,XXY (KS) occurs in 1:650 male births, though less than 25% are ever identified. We assessed stability of neurocognitive features across diverse populations and quantified factors mediating outcome. Forty-four boys from the Netherlands (NL) and 54 boys from the United States (US) participated. Read More

    History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands.
    Am J Med Genet A 2018 Mar 5;176(3):618-637. Epub 2018 Feb 5.
    Department of Anatomy, Embryology and Physiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    The anatomical collection of the Anatomical Museum of Leiden University Medical Center (historically referred to as Museum Anatomicum Academiae Lugduno-Batavae) houses and maintains more than 13,000 unique anatomical, pathological and zoological specimens, and include the oldest teratological specimens of The Netherlands. Throughout four centuries hundreds of teratological specimens were acquired by more than a dozen collectors. Due to the rich history of this vast collection, teratological specimens can be investigated in a unique retrospective sight going back almost four centuries. Read More

    A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.
    Am J Med Genet A 2018 Mar 5;176(3):609-617. Epub 2018 Feb 5.
    Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Research Institute, Little Rock, Arkansas.
    The association between conotruncal heart defects (CTHDs) and maternal genetic and environmental exposures is well studied. However, little is known about paternal genetic or environmental exposures and risk of CTHDs. We assessed the effect of paternal genetic variants in the folate, homocysteine, and transsulfuration pathways on risk of CTHDs in offspring. Read More

    CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.
    Am J Med Genet A 2018 Mar 2;176(3):733-738. Epub 2018 Feb 2.
    Department of Dermatology, American University of Beirut, Beirut, Lebanon.
    Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. Read More

    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
    Am J Med Genet A 2018 Mar 1;176(3):515-550. Epub 2018 Feb 1.
    National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C. Read More

    Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
    Am J Med Genet A 2018 Mar 1;176(3):692-698. Epub 2018 Feb 1.
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
    Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl-CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only three unrelated patients. Two had severe, unremitting disease; one died at 4 months and the other at 5 years of age. Read More

    Growth pattern of Rahman syndrome.
    Am J Med Genet A 2018 Mar 31;176(3):712-714. Epub 2018 Jan 31.
    Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan.
    Recently, in a cohort study with "overgrowth syndrome with intellectual disability," five subjects were reported to have de novo heterozygous truncating variants in HIST1H1E, which encodes linker histone H 1.4. However, their growth pattern appeared complex that four out of five patients had a decreasing height percentile over time, and three of these patients began with above-average heights but exhibited reductions to average heights or below when they were older. Read More

    A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
    Am J Med Genet A 2018 Mar 31;176(3):727-732. Epub 2018 Jan 31.
    Department of Paediatrics, Hvidovre University Hospital, Copenhagen, Denmark.
    Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date, approximately 50 SD/THE patients have been described with a wide spectrum of mutations, and only one recurrent mutation has been identified in independent families. Read More

    Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
    Am J Med Genet A 2018 Mar 31;176(3):715-721. Epub 2018 Jan 31.
    Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia.
    Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p. Read More

    Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
    Am J Med Genet A 2018 Mar 31;176(3):739-742. Epub 2018 Jan 31.
    Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
    Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Read More

    Perthes disease: A new finding in Floating-Harbor syndrome.
    Am J Med Genet A 2018 Mar 31;176(3):703-706. Epub 2018 Jan 31.
    Genetica Medica, Dip. Scienze della Salute, Università degli Studi di Milano, Milano, Italy.
    Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. Read More

    Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
    Am J Med Genet A 2018 Jan 31. Epub 2018 Jan 31.
    South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
    Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Read More

    Clinical and cytogenomic findings in OAV spectrum.
    Am J Med Genet A 2018 Mar 25;176(3):638-648. Epub 2018 Jan 25.
    Department of Morphology and Genetics, Federal University of São Paulo, São Paulo, Brazil.
    The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Read More

    NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.
    Am J Med Genet A 2018 Mar 24;176(3):649-656. Epub 2018 Jan 24.
    Department of Orthopedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.
    Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. It involves anatomical abnormalities that change the normal flow of blood through the heart resulting in low oxygenation. Although not all of the underlying causes of TOF are completely understood, the disease has been associated with varying genetic etiologies including chromosomal abnormalities and Mendelian disorders, but can also occur as an isolated defect. Read More

    Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.
    Am J Med Genet A 2018 Jan 24. Epub 2018 Jan 24.
    The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada.
    22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. Read More

    Benign and malignant tumors in Rubinstein-Taybi syndrome.
    Am J Med Genet A 2018 Mar 23;176(3):597-608. Epub 2018 Jan 23.
    Department of Pathology, VU University Medical Centre, Amsterdam, The Netherlands.
    Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. Read More

    Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
    Am J Med Genet A 2018 Mar 23;176(3):589-596. Epub 2018 Jan 23.
    Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P.R. China.
    Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described. Read More

    Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
    Am J Med Genet A 2018 Mar 23;176(3):707-711. Epub 2018 Jan 23.
    Department of Pediatrics, Kindai University Faculty of Medicine, Osaka, Japan.
    MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Read More

    Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
    Am J Med Genet A 2018 Mar 19;176(3):560-569. Epub 2018 Jan 19.
    Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
    Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings. Read More

    Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
    Am J Med Genet A 2018 Mar 17;176(3):668-675. Epub 2018 Jan 17.
    Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
    The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. Read More

    A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.
    Am J Med Genet A 2018 Mar 17;176(3):699-702. Epub 2018 Jan 17.
    Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
    Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Read More

    Somatic mosaic deletions involving SCN1A cause Dravet syndrome.
    Am J Med Genet A 2018 Mar 17;176(3):657-662. Epub 2018 Jan 17.
    Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
    Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. Read More

    Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
    Am J Med Genet A 2018 Mar 17;176(3):551-559. Epub 2018 Jan 17.
    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
    Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1. In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low-copy repeats (LCRs) designated "K" and "L" were reported with intellectual disability and epilepsy. Read More

    Phenotypic heterogeneity of ZMPSTE24 deficiency.
    Am J Med Genet A 2018 Jan 17. Epub 2018 Jan 17.
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
    A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c. Read More

    Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions.
    Am J Med Genet A 2018 Mar 17;176(3):570-577. Epub 2018 Jan 17.
    Department of Pediatrics, University of California San Diego, San Diego, California.
    The purpose of this study was to analyze the risk of maternal autoimmune disease or associated treatments on infantile hemangiomas (IHs), a common benign vascular tumor in infants, and to better understand how maternal chronic inflammation may play a factor in the pathogenesis of these lesions. Eligible women from the United States and Canada who enrolled before 19 weeks' gestation and delivered at least one live born infant were recruited as part of the Organization of Teratology Information Specialists (OTIS) Autoimmune Disease in Pregnancy Project from 2004-2013. A total of 51/969 (5. Read More

    Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.
    Am J Med Genet A 2018 Mar 17;176(3):682-686. Epub 2018 Jan 17.
    Department of Neonatology, NHO Okayama Medical Center, Okayama, Japan.
    Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. Read More

    Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
    Am J Med Genet A 2018 Jan 17. Epub 2018 Jan 17.
    The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. Read More

    Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
    Am J Med Genet A 2018 Mar 17;176(3):676-681. Epub 2018 Jan 17.
    Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
    Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Read More

    Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
    Am J Med Genet A 2018 Feb;176(2):337-350
    Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
    The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22. Read More

    Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
    Am J Med Genet A 2018 Mar 13;176(3):687-691. Epub 2018 Jan 13.
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Read More

    A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
    Am J Med Genet A 2018 Mar 5;176(3):663-667. Epub 2018 Jan 5.
    UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.
    Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Read More

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