Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

• Published in: Clinical genetics Vol. 99; no. 5; pp. 732 - 739
• Main 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
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-05-2021; Wiley
• Subjects: Abnormalities, Multiple - genetics; Adaptor Proteins, Signal Transducing - genetics; Adolescent; Biopsy; Child; Child, Preschool; Developmental Disabilities - genetics; Female; Gait; Genetics; Humans; hypotonia; Infant; intellectual disability; language development disorders; Life Sciences; Male; Mutation; Phenotype; Phenotypes; Seizures; Skraban‐Deardorff syndrome; Speech; speech therapy; Syndrome; WDR26; Young Adult; phenotype; WDR26; language development disorders; speech therapy; Skraban-Deardorff syndrome; hypotonia; intellectual disability
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.13933

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.
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.