Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Skraban-Deardorff syndrome
WDR26
hypotonia
intellectual disability
language development disorders
phenotype
speech therapy
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
revised:
15
01
2021
received:
25
11
2020
accepted:
23
01
2021
pubmed:
29
1
2021
medline:
1
2
2022
entrez:
28
1
2021
Statut:
ppublish
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.
Substances chimiques
Adaptor Proteins, Signal Transducing
0
WDR26 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
732-739Informations de copyright
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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