16 results match your criteria: "Centre de Référence Anomalies du Développement SOOR[Affiliation]"
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
September 2024
Département de Génétique, Hôpital Robert-Debré, Paris, France.
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Am J Med Genet B Neuropsychiatr Genet
September 2024
Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.
View Article and Find Full Text PDFExpansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
September 2024
Département de Génétique, Hôpital Robert-Debré, Paris, France.
Article Synopsis
- The translation elongation factor eEF1A2 is crucial for binding aminoacyl-tRNA to the ribosome, and since 2012, 21 harmful variants have been linked to severe neurodevelopmental disorders, including epilepsy and intellectual disabilities.
- A recent study gathered 26 patients with EEF1A2 variants, revealing a milder clinical profile than previously reported, with higher walking and language skills and lower rates of intellectual disability and epilepsy.
- The research identified 8 new EEF1A2 variants and suggests that severe and moderate phenotypes are linked to specific protein regions affecting GTP exchange, while milder variants may affect secondary functions, contributing to a broader understanding
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Sci Rep
January 2024
Imagine Institute, INSERM UMR1163, 75015, Paris, France.
Article Synopsis
- The study aims to create a new AI-based model for identifying Kabuki Syndrome (KS) from 2D facial photos, differentiating between its two types: KS1 (KMT2D-related) and KS2 (KDM6A-related).
- Utilizing over 1,400 facial images from 634 patients and controls, researchers incorporated machine learning techniques, specifically XGboost, for improved predictive accuracy.
- The proposed model achieved an impressive accuracy of 95.8% in identifying KS and showed better performance than existing AI solutions and expert evaluations.
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Eur J Hum Genet
December 2023
Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
January 2024
Service de génétique médicale, CHU de Nantes, Nantes, France.
Article Synopsis
- DYRK1A Syndrome is caused by mutations in the DYRK1A gene, leading to global developmental delays, intellectual disability, and common physical issues like low birth weight and microcephaly.
- The study compiled growth data from 92 individuals with the syndrome, utilizing various sources including pediatric records and scientific literature.
- New growth charts were created for key measurements (height, weight, BMI, occipitofrontal circumference) for children aged 0-5 years, providing a useful tool for managing patients with DYRK1A Syndrome.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.
J Med Genet
January 2024
Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands.
Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far.
Methods: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Eur J Hum Genet
July 2023
Speech and Language, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associated with childhood apraxia of speech (CAS), a systematic characterisation of communication has not been conducted. Here we examined speech, language, non-verbal communication skills, social behaviour and health and development in 41 individuals with CDK13-related disorder from 10 countries (male = 22, median-age 7 years 1 month, range 1-25 years; 33 novel).
View Article and Find Full Text PDF1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
February 2023
Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Genet Med
December 2022
Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA.
Purpose: The study aimed to identify novel genes for idiopathic hypogonadotropic hypogonadism (IHH).
Methods: A cohort of 1387 probands with IHH underwent exome sequencing and de novo, familial, and cohort-wide investigations. Functional studies were performed on 2 p190 Rho GTPase-activating proteins (p190 RhoGAP), ARHGAP35 and ARHGAP5, which involved in vivo modeling in larval zebrafish and an in vitro p190A-GAP activity assay.
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
Nat Commun
July 2022
Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.
SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense and six missense variants) in SLITRK2 on the X chromosome identified by exome sequencing in individuals with neurodevelopmental disorders. Functional studies showed that some variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects.
View Article and Find Full Text PDFClinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
Int J Mol Sci
February 2022
Team Physiopathologie des Maladies Psychiatriques, GDR3557-Institut de Psychiatrie, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université de Paris, 75006 Paris, France.
Article Synopsis
- Wiedemann-Steiner syndrome (WDSTS) is an intellectual disability condition with features like short stature and hypertrichosis cubiti, caused by mutations in a specific gene.
- The syndrome can present with a wide range of symptoms, making diagnosis challenging, especially in less typical cases.
- Researchers identified a unique DNA methylation episignature in patients, which can help classify genetic variants related to WDSTS and potentially provide better diagnostic insight and understanding of the syndrome's molecular causes.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
May 2022
Génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, INSERM U1183, ERN ITHACA, Montpellier, France. Electronic address:
Article Synopsis
- Rare genetic variants in the CDK13 gene cause CDK13-related disorder (CDK13-RD), which includes symptoms like developmental delays, facial abnormalities, and seizures; this paper presents 18 new cases with detailed disease characterization.
- The study involved clinical data analysis, comparison of DNA methylation between CDK13-RD individuals and controls, and the development of a machine learning model to differentiate CDK13-RD from other disorders.
- The findings reveal new symptoms associated with CDK13-RD, establish a specific DNA methylation profile as a diagnostic tool, and highlight similarities with another disorder related to the CCNK gene.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Eur J Hum Genet
June 2022
Montpellier University, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Centre de référence anomalies du développement SOOR, INSERM U1183, Montpellier, France.
Article Synopsis
- Kabuki syndrome (KS) is a rare genetic disorder linked to mutations in the KMT2D and KDM6A genes, causing two types: KS1 and KS2.
- The study aimed to identify differences in facial morphology between KS1 and KS2 using a facial-recognition algorithm, comparing images of individuals from a specific ethnicity.
- Results showed a statistically significant difference in facial characteristics between the two types, validated by trained clinical geneticists, highlighting the algorithm's effectiveness in distinguishing KS1 and KS2.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
July 2022
Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany
Background: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in . It was first described by O'Donnell-Luria in 2019 in a cohort of 38 patients. Clinical features encompass macrocephaly, mild intellectual disability (ID), autism spectrum disorder (ASD) susceptibility and seizure susceptibility.
View Article and Find Full Text PDFEvaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
March 2020
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:
Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results.
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