Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review / Roseline CAUMES in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review Type de document : texte imprimé Auteurs : Roseline CAUMES, Auteur ; Pauline BURGER, Auteur ; Jean-Louis MANDEL, Auteur ; Hélène BÉHAL, Auteur ; Jamal GHOUMID, Auteur ; Thomas SMOL, Auteur Langues : Anglais (eng) Mots-clés : Humans  Intellectual Disability/genetics/epidemiology/physiopathology  Male  Female  Child  Developmental Disabilities/genetics  Mediator Complex/genetics  Child, Preschool  Phenotype  Adolescent  Databases, Factual  Family  Infant  Intellectual disability  Med13l  Patient registry  collected and informed consent was obtained for genetic studies. Analyses were  performed on a diagnostic basis in accordance with the bioethical rules of French  law. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : The GenIDA project aims to improve the understanding and management of rare genetic forms of intellectual disability by fostering collaboration among patients, caregivers, healthcare professionals, and research professionals. Clinical data is provided by patients' families via a structured questionnaire to identify medically relevant insights and better understand the natural history of rare diseases. This study focused on MED13L syndrome, analyzing data from 41 patients in the GenIDA database and comparing it with 102 cases from the scientific literature and 6 new descriptions of patients from our medical center.The GenIDA series confirmed the key features of MED13L syndrome, including global developmental delay, poor speech, intellectual disability, and cardiac defects (OMIM #616789), at frequencies similar to those reported in the literature. The GenIDA series identified a higher prevalence of visual impairment (76%) and highlighted under-recognized musculoskeletal issues, such as foot deformities, which had previously received little attention. This study highlights the value of family-reported data in describing the full phenotype of rare syndromes. A comprehensive review of published cases showed that patients with missense variants have more severe impairments, including increased cardiac defects, global developmental delay, and a higher incidence of epilepsy, than patients with premature truncated variants.These findings highlight the importance of family involvement in rare disease research and the need for further studies to explore genotype-phenotype correlations to improve patient care and outcomes. En ligne : https://dx.doi.org/10.1186/s11689-025-09618-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review [texte imprimé] / Roseline CAUMES, Auteur ; Pauline BURGER, Auteur ; Jean-Louis MANDEL, Auteur ; Hélène BÉHAL, Auteur ; Jamal GHOUMID, Auteur ; Thomas SMOL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Intellectual Disability/genetics/epidemiology/physiopathology  Male  Female  Child  Developmental Disabilities/genetics  Mediator Complex/genetics  Child, Preschool  Phenotype  Adolescent  Databases, Factual  Family  Infant  Intellectual disability  Med13l  Patient registry  collected and informed consent was obtained for genetic studies. Analyses were  performed on a diagnostic basis in accordance with the bioethical rules of French  law. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : The GenIDA project aims to improve the understanding and management of rare genetic forms of intellectual disability by fostering collaboration among patients, caregivers, healthcare professionals, and research professionals. Clinical data is provided by patients' families via a structured questionnaire to identify medically relevant insights and better understand the natural history of rare diseases. This study focused on MED13L syndrome, analyzing data from 41 patients in the GenIDA database and comparing it with 102 cases from the scientific literature and 6 new descriptions of patients from our medical center.The GenIDA series confirmed the key features of MED13L syndrome, including global developmental delay, poor speech, intellectual disability, and cardiac defects (OMIM #616789), at frequencies similar to those reported in the literature. The GenIDA series identified a higher prevalence of visual impairment (76%) and highlighted under-recognized musculoskeletal issues, such as foot deformities, which had previously received little attention. This study highlights the value of family-reported data in describing the full phenotype of rare syndromes. A comprehensive review of published cases showed that patients with missense variants have more severe impairments, including increased cardiac defects, global developmental delay, and a higher incidence of epilepsy, than patients with premature truncated variants.These findings highlight the importance of family involvement in rare disease research and the need for further studies to explore genotype-phenotype correlations to improve patient care and outcomes. En ligne : https://dx.doi.org/10.1186/s11689-025-09618-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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