Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/124770
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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.
Berkovic, S.
Gecz, J.
Citation: European Journal of Medical Genetics, 2019; 63(4):103799
Publisher: Elsevier
Issue Date: 2019
ISSN: 1769-7212
1878-0849
Statement of
Responsibility: 
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; Epilepsy; Zimmerman-laband syndrome
Rights: © 2019 Elsevier Masson SAS. All rights reserved.
RMID: 1000003445
DOI: 10.1016/j.ejmg.2019.103799
Appears in Collections:Medicine publications

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