Fiche publication
Date publication
janvier 2021
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, Van Maldergem L, Piton A, Gérard B, Mau-Them FT, Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A
Lien Pubmed
Résumé
Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients' phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any musculoskeletal or neurological abnormalities and prompt further examinations. Speech therapy and alternative communication methods should be initiated early in the clinical follow-up, in order to improve language and oral eating and drinking.
Mots clés
Skraban-Deardorff syndrome, WDR26, hypotonia, intellectual disability, language development disorders, phenotype, speech therapy
Référence
Clin Genet. 2021 Jan 28;:
