Journal article

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

Marie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Sunita Koirala, Alison Gardner, Lukasz Kuszel, Piotr Kowal, Barbara Steinborn, Monika Starczewska, Sarah Garry, Ingrid E Scheffer, Samuel F Berkovic, Jozef Gecz

European Journal of Medical Genetics | ELSEVIER | Published : 2020


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 epilep..

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Awarded by Australian National Health and Medical Research Council

Funding Acknowledgements

We thank the members of the families studied for their participation. This work was supported by the Australian National Health and Medical Research Council grants APP101593 and APP1041920, and a statutory grant of Chair and Department of Medical Genetics of PUMS, Poznan, Poland.