EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

2020-04

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

ATP6V1B2

Autosomal dominant inheritance

Deafness-onychodystrophy syndrome

Epilepsy

Zimmerman-laband syndrome

Journal Article

0000-0002-2311-2174

0000-0003-4580-841X

10.1016/j.ejmg.2019.103799

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.

link

European journal of medical genetics 2020; 63(4): 103799

European journal of medical genetics