Fiche publication
Date publication
octobre 2025
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr KUENTZ Paul
Tous les auteurs :
Lesieur-Sebellin M, Wigby K, Schaefer E, Gouronc A, Chatron N, Poulat AL, Putoux A, Goldenberg A, Quibeuf M, Chambon P, Rondeau S, Barcia G, Levy J, Piard J, Kuentz P, Doco-Fenzy M, Bednarek N, Caumes R, Bouquillon S, Le Caignec C, Patat O, Khau Van Kien P, Chiesa J, Delplancq G, Bacrot S, Brisset S, Ginglinger E, Cantagrel V, Lenberg J, Friedman JR, Rio M, Scheidecker S, Malan V
Lien Pubmed
Résumé
Pathogenic gain-of-function or dominant-negative effect missense variations in are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures, sensorineural hearing loss, cerebral, renal and ocular abnormalities and dysmorphic features (Baraitser-Winter cerebrofrontofacial syndrome). encodes beta-actin, a highly conserved protein involved in cell motility, structure and integrity. Deletions including and, more rarely, single-nucleotide loss-of-function variants in have been described in patients with a distinct phenotype including developmental delay, ID, microcephaly, growth restriction, cardiac and renal abnormalities and dysmorphic features.
Mots clés
Cytogenetics, Genetic Counseling, Genetics, Human Genetics, Sequence Analysis, DNA
Référence
J Med Genet. 2025 10 8;:
