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, Łukasz Kuszel, Piotr Kowal, Barbara Steinborn, Monika Starczewska, Sarah Garry, Ingrid E. Scheffer, Samuel F. Berkovic, Jozef Gecz

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8 Citations (Scopus)


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.

Original languageEnglish
Article number103799
JournalEuropean Journal of Medical Genetics
Issue number4
Publication statusPublished or Issued - Apr 2020


  • ATP6V1B2
  • Autosomal dominant inheritance
  • Deafness-onychodystrophy syndrome
  • Epilepsy
  • Zimmermann-Laband syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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