Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype. Issue 5 (8th February 2021)

• Record Type: Journal Article
• Authors: Cospain, Auriane; Schaefer, Elise; Faoucher, Marie; Dubourg, Christèle; Carré, Wilfrid; Bizaoui, Varoona; Assoumani, Jessica; Van Maldergem, Lionel; Piton, Amélie; Gérard, Bénédicte; Tran Mau‐Them, Frédéric; Bruel, Ange‐Line; Faivre, Laurence; Demurger, Florence; Pasquier, Laurent; Odent, Sylvie; Fradin, Mélanie; Lavillaureix, Alinoë
• Is Part Of: Clinical genetics. Volume 99:Issue 5(2021)
• Page Start: 732
• Page End: 739
• Publication Date: 2021-02-08
• Subjects: hypotonia -- intellectual disability -- language development disorders -- phenotype -- Skraban‐Deardorff syndrome -- speech therapy -- WDR26; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13933
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: 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. Abstract : Clinical and molecular description of six new cases of Skraban‐Deardorff syndrome, a disease related to the WDR26 gene. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. One patient displayed marked hypotonia with an abnormal muscle biopsy.