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Type: Journal article
Title: EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities
Author: Shaw, M.
Winczewska-Wiktor, A.
Badura-Stronka, M.
Koirala, S.
Gardner, A.
Kuszel, Ł.
Kowal, P.
Steinborn, B.
Starczewska, M.
Garry, S.
Scheffer, I.E.
Berkovic, S.F.
Gecz, J.
Citation: European Journal of Medical Genetics, 2019; 63(4):103799-1-103799-7
Publisher: Elsevier
Issue Date: 2019
ISSN: 1769-7212
Statement of
Marie Shawa, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Sunita Koirala ... Alison Gardner ... Jozef Gecz ... et al.
Abstract: Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. Recently epilepsy has also been described as a potentially associated phenotype. Here we further uncover the role of ATP61VB2 in epilepsy and report autosomal dominant inheritance of a novel missense variant in ATP6V1B2 in a large Polish family with relatively mild gingival and nail problems, no phalangeal hypoplasia and with generalized epilepsy. In light of our findings and review of the literature, we propose that the ATP6V1B2 gene should be considered in families with autosomal dominant epilepsy both with or without intellectual disability, and that presence of subtle gingival and nail problems may be another characteristic calling card of affected individuals with ATP6V1B2 mutations.
Keywords: ATP6V1B2
Autosomal dominant inheritance
Deafness-onychodystrophy syndrome
Zimmerman-laband syndrome
Rights: © 2019 Elsevier Masson SAS. All rights reserved.
DOI: 10.1016/j.ejmg.2019.103799
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