Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21955
Title: EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
Austin Authors: Shaw, Marie;Winczewska-Wiktor, Anna;Badura-Stronka, Magdalena;Koirala, Sunita;Gardner, Alison;Kuszel, Łukasz;Kowal, Piotr;Steinborn, Barbara;Starczewska, Monika;Garry, Sarah;Scheffer, Ingrid E ;Berkovic, Samuel F ;Gecz, Jozef
Affiliation: Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland
Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland
Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland
Central Department of Biotechnology, Tribhuvan University, Kathmandu, Nepal
Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital and Florey Institute, Victoria, Australia
Epilepsy Research Centre
Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia
Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia
Issue Date: Apr-2020
metadata.dc.date: 2019-10-23
Publication information: European journal of medical genetics 2020; 63(4): 103799
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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/21955
DOI: 10.1016/j.ejmg.2019.103799
ORCID: 0000-0002-2311-2174
0000-0003-4580-841X
PubMed URL: 31655144
Type: Journal Article
Subjects: ATP6V1B2
Autosomal dominant inheritance
Deafness-onychodystrophy syndrome
Epilepsy
Zimmerman-laband syndrome
Appears in Collections:Journal articles

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