735 results match your criteria Rubinstein-Taybi Syndrome


Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.

J Clin Immunol 2020 Jun 27. Epub 2020 Jun 27.

Departamento de Nefrología, Hospital Universitario de Santiago, Santiago de Compostela, Spain.

Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been reported. The objective of this study was to investigate primary immunodeficiency (PID) and immune dysregulation in an international cohort of patients with RSTS. All published cases of RSTS were identified. Read More

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http://dx.doi.org/10.1007/s10875-020-00808-4DOI Listing

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.

Mol Neurobiol 2020 Jun 20. Epub 2020 Jun 20.

Cytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano, IRCCS, Milan, Italy.

Rubinstein-Taybi syndrome (RSTS) is a rare multisystem developmental disorder with moderate to severe intellectual disability caused by heterozygous mutations of either CREBBP or EP300 genes encoding CBP/p300 chromatin regulators. We explored the gene programs and processes underlying the morphological and functional alterations shown by iPSC-derived neurons modeling RSTS to bridge the molecular changes resulting from defective CBP/p300 to cognitive impairment. By global transcriptome analysis, we compared the differentially expressed genes (DEGs) marking the transition from iPSC-derived neural progenitors to cortical neurons (iNeurons) of five RSTS patients carrying private CREBBP/EP300 mutations and manifesting differently graded neurocognitive signs with those of four healthy controls. Read More

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http://dx.doi.org/10.1007/s12035-020-01983-6DOI Listing

Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus.

J Ultrasound 2020 Jun 18. Epub 2020 Jun 18.

Department of Obstetrics and Gynecology "L. Mangiagalli", Fondazione IRCCS "Ca' Granda"- Ospedale Maggiore Policlinico, Milan, Italy.

Rubinstein-Taybi syndrome is a rare genetic multisystem disorder with an estimated prevalence between 1 per 100,000-125,000 live births. Diagnosis is usually clinical and subsequent to birth. In fact, the rarity of the syndrome and the presence of aspecific morphologic anomalies make prenatal diagnosis challenging. Read More

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http://dx.doi.org/10.1007/s40477-020-00491-6DOI Listing

The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.

Cureus 2020 Apr 29;12(4):e7891. Epub 2020 Apr 29.

Pediatric Cardiology, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Read More

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http://dx.doi.org/10.7759/cureus.7891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255536PMC

Rubinstein-Taybi Syndrome: A Rare Case Report.

Indian Dermatol Online J 2020 Mar-Apr;11(2):258-260. Epub 2020 Mar 9.

Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur, Maharashtra, India.

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http://dx.doi.org/10.4103/idoj.IDOJ_108_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247649PMC

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Am J Med Genet A 2020 Jul 31;182(7):1690-1696. Epub 2020 May 31.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

Cornelia de Lange syndrome (CdLS), Rubinstein-Taybi syndrome (RSTS), and KBG syndrome are three distinct developmental human disorders. Variants in seven genes belonging to the cohesin pathway, NIPBL, SMC1A, SMC3, HDAC8, RAD21, ANKRD11, and BRD4, were identified in about 80% of patients with CdLS, suggesting that additional causative genes remain to be discovered. Two genes, CREBBP and EP300, have been associated with RSTS, whereas KBG results from variants in ANKRD11. Read More

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http://dx.doi.org/10.1002/ajmg.a.61611DOI Listing

CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2020 Feb;45(2):198-203

Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China

Rubinstein-Taybi syndrome (RSTS), also known as broad thumb-great toe syndrome or broad digits syndrome, is a rare autosomal dominant genetic disease. The main features of the patients are craniofacial dysmorphisms, skeletal malformations, and delay of growth and psychomotor development. In this case, the child has a typical RSTS specific face and growth retardation, with atypical indirect inguinalhemia. Read More

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http://dx.doi.org/10.11817/j.issn.1672-7347.2020.180770DOI Listing
February 2020

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Mol Genet Genomic Med 2020 Apr 26:e1263. Epub 2020 Apr 26.

Genomics Platform, Berlin Institute of Health, Berlin, Germany.

Background: Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis.

Methods, Results, And Conclusions: Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype-driven bioinformatic analysis method, PhenIX, utilizing targeted next-generation sequencing (NGS) data and Human Phenotype Ontology (HPO)-encoded phenotype data. Read More

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http://dx.doi.org/10.1002/mgg3.1263DOI Listing

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.

Orphanet J Rare Dis 2020 Apr 22;15(1):101. Epub 2020 Apr 22.

Guangdong Cardiovascular Institute, Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.

Background: Rubinstein-Taybi syndrome (RTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RTS phenotypes than those caused by CREBBP point mutations, suggesting a concurrent pathogenetic role of flanking genes, typical of contiguous gene syndromes, but the detailed genetics are unclear.

Results: This study presented a rare case of Rubinstein-Taybi (RT) syndrome with serious cardiac abnormalities. Read More

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http://dx.doi.org/10.1186/s13023-020-01378-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178576PMC

An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.

J Autism Dev Disord 2020 Mar 18. Epub 2020 Mar 18.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, 52 Pritchatts Road, Edgbaston, B15 2TT, UK.

We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with FXS (p < 0.01) and RTS (p < 0. Read More

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http://dx.doi.org/10.1007/s10803-020-04440-4DOI Listing

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the , , , and Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.

Case Rep Genet 2020 9;2020:6143050. Epub 2020 Jan 9.

Prince Mohammed Bin Abdulaziz Hospital, Riyadh, Saudi Arabia.

The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the , , , and genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Read More

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http://dx.doi.org/10.1155/2020/6143050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064822PMC
January 2020

Non-vascularized toe phalanx transfer for correction of severe clinodactyly of the thumb in Rubinstein-Taybi syndrome.

J Hand Surg Eur Vol 2020 Mar 12:1753193420909784. Epub 2020 Mar 12.

Hôpital Necker Enfants Malades, Service d'Orthopédie et de Traumatologie Pédiatrique, Paris, France.

In Rubinstein-Taybi syndrome, patients may have a particularly severe clinodactyly of the thumb. We evaluated a new method for correction of these severe clinodactylies using non-vascularized toe phalanx transfer as a replacement for the abnormal delta phalanx. Results of the new technique are presented, together with those of an osteotomy technique. Read More

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http://dx.doi.org/10.1177/1753193420909784DOI Listing

KMT2C/D COMPASS complex-associated diseases [KCOM-ADs]: an emerging class of congenital regulopathies.

Clin Epigenetics 2020 Jan 10;12(1):10. Epub 2020 Jan 10.

Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA.

The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D COMPASS complexes (complex of proteins associating with Set1). These evolutionarily conserved proteins regulate DNA promoter and enhancer elements, modulating the activity of diverse cell types critical for embryonic morphogenesis, central nervous system development, and post-natal survival. KMT2C/D COMPASS complexes and their binding partners enhance active gene expression of specific loci via the targeted modification of histone-3 tail residues, in general promoting active euchromatic conformations. Read More

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http://dx.doi.org/10.1186/s13148-019-0802-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954584PMC
January 2020

The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration.

Acta Neuropathol Commun 2019 12 5;7(1):199. Epub 2019 Dec 5.

Research Institute Children's Cancer Center Hamburg, Martinistrasse 52, N63 (HPI), 20251, Hamburg, Germany.

CREB (cyclic AMP response element binding protein) binding protein (CBP, CREBBP) is a ubiquitously expressed transcription coactivator with intrinsic histone acetyltransferase (KAT) activity. Germline mutations within the CBP gene are known to cause Rubinstein-Taybi syndrome (RSTS), a developmental disorder characterized by intellectual disability, specific facial features and physical anomalies. Here, we investigate mechanisms of CBP function during brain development in order to elucidate morphological and functional mechanisms underlying the development of RSTS. Read More

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http://dx.doi.org/10.1186/s40478-019-0849-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896766PMC
December 2019

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.

Brain Dev 2020 Feb 6;42(2):192-198. Epub 2019 Nov 6.

Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Background: Coffin-Siris syndrome (CSS) is a neurodevelopmental disorder characterized by somatic dysmorphic features, developmental and speech delay. It is due to mutations in many different genes, belonging to BAF chromatin-remodelling complex. The last gene involved in this complex, recently individuated and related to CSS, was DPF2, although only nine patients have been reported until now. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.10.007DOI Listing
February 2020

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Mol Genet Genomic Med 2019 12 22;7(12):e1009. Epub 2019 Oct 22.

Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics-associated gene, CREBBP. To date, there is no cohort study of CREBBP variants in Chinese RSTS patients. Read More

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http://dx.doi.org/10.1002/mgg3.1009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900364PMC
December 2019
1 Read

Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?

Pediatr Dermatol 2020 Jan 16;37(1):9-17. Epub 2019 Oct 16.

Board Certified Dermatologist, Aurora Health Care, Milwaukee, Wisconsin.

Background: Multiple pilomatricomas have been linked to various syndromes. However, these associations are poorly defined, leaving practitioners conflicted on management of these patients.

Objective: To perform a comprehensive review to clarify the strength of these relationships and identify which patients may benefit from additional screening and/or genetic screening. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.13947
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http://dx.doi.org/10.1111/pde.13947DOI Listing
January 2020
1 Read

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Mol Genet Genomic Med 2019 11 30;7(11):e972. Epub 2019 Sep 30.

Center for Biomedical Research (CIBIR), Fundación Rioja Salud, Logroño, Spain.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes' phenotype, which makes clinical diagnosis challenging. CREBBP is the major causative gene (55%-60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients. Read More

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http://dx.doi.org/10.1002/mgg3.972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825870PMC
November 2019
2 Reads

A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

J Autism Dev Disord 2020 Jan;50(1):127-144

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, B15 2TT, UK.

Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Read More

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http://dx.doi.org/10.1007/s10803-019-04232-5DOI Listing
January 2020
2 Reads

[Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Sep;36(9):886-889

The Affiliated Hospital, School of Medicine, UESTC, Chengdu Women's and Children's Central Hospital, Chengdu, Sichuan 610019,

Objective: To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS).

Methods: Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.09.008DOI Listing
September 2019
3 Reads

Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.

Carcinogenesis 2020 May;41(3):257-266

Istituto di Genetica Molecolare, Unità Stabilità del Genoma CNR, Via Abbiategrasso, Pavia, Italy.

Rubinstein-Taybi syndrome (RSTS) is an autosomal-dominant disorder characterized by intellectual disability, skeletal abnormalities, growth deficiency and an increased risk of tumors. RSTS is predominantly caused by mutations in CREBBP or EP300 genes encoding for CBP and p300 proteins, two lysine acetyl-transferases (KAT) playing a key role in transcription, cell proliferation and DNA repair. However, the efficiency of these processes in RSTS cells is still largely unknown. Read More

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https://academic.oup.com/carcin/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/carcin/bgz149DOI Listing
May 2020
4 Reads

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.

Stem Cell Res 2019 10 28;40:101553. Epub 2019 Aug 28.

Istituto Auxologico Italiano-IRCCS, Medical Cytogenetics & Human Molecular Genetics, Milan, Italy. Electronic address:

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood of RSTS1 patients with unique non sense c.4435G > T, p. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101553DOI Listing
October 2019
4 Reads

Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease.

Front Pediatr 2019 23;7:304. Epub 2019 Jul 23.

Department of Pediatrics, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Evans syndrome (ES) is a rare but challenging condition, characterized by recurrent and refractory cytopenia episodes. Recent discoveries highlighted that an appropriate diagnostic workup is fundamental to identify an underlying immune dysregulation such as primary immunodeficiencies or a rheumatological disease. We hereby describe clinical features and laboratory results of 12 pediatric patients affected by ES referred to the Pediatric Onco-Hematology Unit of Bologna. Read More

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https://www.frontiersin.org/article/10.3389/fped.2019.00304/
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http://dx.doi.org/10.3389/fped.2019.00304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664023PMC
July 2019
8 Reads

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Eur J Endocrinol 2019 Aug;181(2):121-128

Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital Düsseldorf, Düsseldorf, Germany.

Objective: Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Read More

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http://dx.doi.org/10.1530/EJE-19-0119DOI Listing
August 2019
38 Reads

Two cases of neuroangiostrongyliasis: A rare disease because rarely considered or rarely diagnosed?

J Paediatr Child Health 2019 Dec 3;55(12):1463-1469. Epub 2019 Apr 3.

Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.

Aim: The rat lungworm, Angiostrongylus cantonensis, is well established in eastern Australia, where it is the almost exclusive cause of human eosinophilic meningoencephalitis (EME). While neuroangiostrongyliasis can result in severe morbidity or death, its diagnosis requires a high index of clinical suspicion among medical practitioners. Prevention requires a high level of public awareness. Read More

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http://dx.doi.org/10.1111/jpc.14461DOI Listing
December 2019
26 Reads

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Clin Dysmorphol 2019 Jul;28(3):142-144

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000268DOI Listing
July 2019
25 Reads

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Am J Med Genet A 2019 06 20;179(6):1058-1062. Epub 2019 Mar 20.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

CREBBP loss-of function variants cause Rubinstein-Taybi syndrome (RTS). There have been two separate reports of patients with missense variants in exon 30 or 31 of CREBBP in individuals lacking the characteristic facial and limb dysmorphism associated with RTS. Frequent features in this condition include variable intellectual disability, short stature, autistic behavior, microcephaly, feeding problems, epilepsy, recurrent upper airway infections, and mild hearing impairment. Read More

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http://dx.doi.org/10.1002/ajmg.a.61131DOI Listing
June 2019
10 Reads

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Hum Genet 2019 Mar 26;138(3):257-269. Epub 2019 Feb 26.

Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

Rubinstein-Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutations in genes encoding for writers of the epigenetic machinery: CREBBP (~ 60%) or its homologous EP300 (~ 10%). No causative mutation is identified in up to 30% of patients. Read More

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http://dx.doi.org/10.1007/s00439-019-01985-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736609PMC
March 2019
19 Reads

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Clin Dysmorphol 2019 Jul;28(3):137-141

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553355PMC
July 2019
11 Reads

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Orphanet J Rare Dis 2019 02 15;14(1):45. Epub 2019 Feb 15.

Center for Medical Genetics, School of life sciences, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, People's Republic of China.

Background: Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diagnosis rapidly and detect the mosaic mutation when only sanger sequencing is taken. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377774PMC
February 2019
17 Reads

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Am J Med Genet A 2019 04 8;179(4):634-638. Epub 2019 Feb 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (CA), Italy.

We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein-Taybi syndrome. Read More

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http://dx.doi.org/10.1002/ajmg.a.61052DOI Listing
April 2019
37 Reads

Anaesthetic implications of Rubinstein-Taybi syndrome.

J Clin Anesth 2019 Sep 23;56:43-44. Epub 2019 Jan 23.

Dept. of Anaesthesiology, Pain Medicine and Critical Care, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1016/j.jclinane.2018.12.056DOI Listing
September 2019
6 Reads

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

BMC Med Genet 2019 01 11;20(1):12. Epub 2019 Jan 11.

Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia.

Background: Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

Case Presentation: We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0747-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330443PMC
January 2019
27 Reads

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Clin Genet 2019 03 11;95(3):420-426. Epub 2019 Jan 11.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with intellectual disability. RSTS is caused by alterations in CREBBP (about 60%) and EP300 genes (8%). RSTS is often diagnosed at birth or during early childhood but generally not suspected during antenatal period. Read More

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http://doi.wiley.com/10.1111/cge.13493
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http://dx.doi.org/10.1111/cge.13493DOI Listing
March 2019
39 Reads

A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient.

Int J Dermatol 2019 Jul 8;58(7):795-796. Epub 2019 Jan 8.

Dermatology Department, Research Unit "Genodermatoses and cancers" LR12SP03, Habib Thameur Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1111/ijd.14379DOI Listing
July 2019
4 Reads

First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Clin Exp Dermatol 2019 Jul 6;44(5):e205-e208. Epub 2019 Jan 6.

Department of Dermatology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.

Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with RSTS while there has been no report of desquamation so far in any patients with RSTS. We report an unusual case of RSTS in an 8-year-old boy who presented with the typical facial and limb abnormalities of RSTS accompanied with apparent hirsutism and desquamation, but without apparent intellectual disability. Read More

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http://doi.wiley.com/10.1111/ced.13871
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http://dx.doi.org/10.1111/ced.13871DOI Listing
July 2019
30 Reads

Main genetic entities associated with supernumerary teeth.

Arch Argent Pediatr 2018 12;116(6):437-444

Unidad de Odontología, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italia.

Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. Read More

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http://dx.doi.org/10.5546/aap.2018.eng.437DOI Listing
December 2018
32 Reads

[Study of point mutations in known genes among patients with unexplained intellectual disability or developmental delay].

Zhonghua Yi Xue Za Zhi 2018 Nov;98(42):3426-3432

Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing 100020, China.

To analyze the point mutations in known genes among patients with unexplained intellectual disability (ID) or developmental retardation (DD). A total of 120 outpatients with ID or DD were recruited in the Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics between September 2015 and April 2017. Target gene sequencing was used to screen the candidate gene. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2018.42.010DOI Listing
November 2018
10 Reads

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Cytogenet Genome Res 2018 16;156(4):191-196. Epub 2018 Nov 16.

Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as "a novel genetic disorder. Read More

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http://dx.doi.org/10.1159/000494871DOI Listing
February 2019
12 Reads

First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.

Front Genet 2018 10;9:464. Epub 2018 Oct 10.

Humanitas Clinical and Research Center, Rozzano, Italy.

Biallelic mutations in the ovarian tumor domain-containing 6B () gene, coding for a deubiquitinating enzyme, were recently described to cause an intellectual disability syndrome characterized by seizures and dysmorphic features in six families worldwide. We here report on a 6-year-old Italian girl, presenting mild intellectual disability, speech and motor delay, and recurrent seizures, who came to our attention after being screened for genes responsible for Rubinstein-Taybi syndrome, Kabuki syndrome, and epilepsy. We hence submitted the proband's DNA to whole-exome sequencing, disclosing two candidate heterozygous splicing mutations in the gene: c. Read More

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https://www.frontiersin.org/article/10.3389/fgene.2018.00464
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http://dx.doi.org/10.3389/fgene.2018.00464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192414PMC
October 2018
34 Reads

The Epigenetic Factor CBP Is Required for the Differentiation and Function of Medial Ganglionic Eminence-Derived Interneurons.

Mol Neurobiol 2019 Jun 17;56(6):4440-4454. Epub 2018 Oct 17.

Instituto de Neurociencias (Universidad Miguel Hernández - Consejo Superior de Investigaciones Científicas), Av. Santiago Ramón y Cajal s/n. Sant Joan d'Alacant. 03550, Alicante, Spain.

The development of inhibitory circuits depends on the action of a network of transcription factors and epigenetic regulators that are critical for interneuron specification and differentiation. Although the identity of many of these transcription factors is well established, much less is known about the specific contribution of the chromatin-modifying enzymes that sculpt the interneuron epigenome. Here, we generated a mouse model in which the lysine acetyltransferase CBP is specifically removed from neural progenitors at the median ganglionic eminence (MGE), the structure where the most abundant types of cortical interneurons are born. Read More

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http://link.springer.com/10.1007/s12035-018-1382-4
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http://dx.doi.org/10.1007/s12035-018-1382-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505511PMC
June 2019
16 Reads

Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature.

Orbit 2019 Aug 5;38(4):335-337. Epub 2018 Sep 5.

b Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute , Hyderabad , India.

Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and hypertelorism. Lacrimal drainage anomalies are not uncommon in this syndrome. We present a patient with Rubinstein-Taybi syndrome with bilateral congenital nasolacrimal duct obstruction and left-sided grossly dilated nasolacrimal duct. Read More

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https://www.tandfonline.com/doi/full/10.1080/01676830.2018.1
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http://dx.doi.org/10.1080/01676830.2018.1515961DOI Listing
August 2019
11 Reads

Spontaneous Keloids: A Literature Review.

Dermatology 2018 16;234(3-4):127-130. Epub 2018 Aug 16.

Background: Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma. There are multiple reported cases in the literature. Read More

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http://dx.doi.org/10.1159/000491924DOI Listing
December 2018
7 Reads

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.

Pediatr Allergy Immunol 2018 11 28;29(7):776-781. Epub 2018 Sep 28.

Department of Pathology, Institute for Molecular Medicine A. Nocivelli, Laboratory of Genetic Disorders of Childhood, University of Brescia, Brescia, Italy.

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http://doi.wiley.com/10.1111/pai.12968
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http://dx.doi.org/10.1111/pai.12968DOI Listing
November 2018
17 Reads

Does Clarithromycin Cause Hearing Loss? A 12-Year Review of Clarithromycin Therapy for Nontuberculous Mycobacterial Lymphadenitis in Children.

Ann Otol Rhinol Laryngol 2018 Oct 21;127(10):687-693. Epub 2018 Jul 21.

1 Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA.

Objective(s): The objective was to describe the characteristics of hearing losses documented in patients treated with clarithromycin alone for nontuberculous mycobacterial NTM lymphadenitis in a pediatric tertiary care center over a 12-year period.

Methods: An institutional review board (IRB) approval was obtained. A database search was performed using the ICD-10 diagnosis codes 31. Read More

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http://dx.doi.org/10.1177/0003489418788112DOI Listing
October 2018
22 Reads

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Stem Cell Res 2018 07 18;30:175-179. Epub 2018 Jun 18.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche -Istituto Auxologico Italiano-IRCCS, Milan, Italy. Electronic address:

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononuclear cells by Sendai virus non integrative reprogramming method. The iPSC line (IAIi001RSTS2-65-A) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was stable by karyotyping. Read More

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http://dx.doi.org/10.1016/j.scr.2018.06.009DOI Listing
July 2018
9 Reads

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem Cell Res 2018 07 30;30:130-140. Epub 2018 May 30.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, 20145 Milano, Italy. Electronic address:

Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP and p300 lysine-acetyltransferases and transcriptional coactivators. No RSTS in vitro induced Pluripotent Stem Cell (iPSC)-neuronal model is available yet to achieve mechanistic insights on cognitive impairment of RSTS patients. We established iPSC-derived neurons (i-neurons) from peripheral blood cells of three CREBBP- and two EP300-mutated patients displaying different levels of intellectual disability, and four unaffected controls. Read More

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http://dx.doi.org/10.1016/j.scr.2018.05.019DOI Listing
July 2018
36 Reads

Septate Uterus in a Girl with Rubinstein-Taybi Syndrome.

Case Rep Pediatr 2018 8;2018:7878156. Epub 2018 Apr 8.

Department of Gynecology and Obstetrics, Hospital Dr. Nélio Mendonça, Serviço de Saúde da Região Autónoma da Madeira, E.P.E. (SESARAM), Funchal, Portugal.

Rubinstein-Taybi syndrome is an extremely rare plurimalformative condition that can affect any organ. However, reports regarding gynecological problems are unusual. We report the first case of a septate uterus in an adolescent with this syndrome, in agreement with the American Society for Reproductive Medicine (ASRM) and the Congenital Uterine Malformations by Expert (CUME) criteria for uterine septum. Read More

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http://dx.doi.org/10.1155/2018/7878156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911335PMC
April 2018
13 Reads