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

• 影响指数: 2.465
• 发表时间: Apr 2020
• 来源期刊: Eur J Med Genet
• DOI: 10.1016/j.ejmg.2019.103799
• PMID: 31655144
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Shaw M,Winczewska-Wiktor A,Badura-Stronka M,Koirala S,Gardner A,Kuszel Ł,Kowal P,Steinborn B,Starczewska M,Garry S,Scheffer IE,Berkovic SF,Gecz J

关键词: ATP6V1B2; Autosomal dominant inheritance; Deafness-onychodystrophy syndrome; Epilepsy; Zimmermann-Laband syndrome

Mesh: Adolescent; Amino Acid Sequence; Child; Child, Preschool; Epilepsy, Frontal Lobe / genetics pathology; Exome / genetics; Female; Gingival Diseases / genetics pathology; Humans; Intellectual Disability / genetics pathology; Male; Mutation, Missense; Nail Diseases / genetics pathology; Pedigree; Phenotype; Sequence Homology; Sleep Wake Disorders / genetics pathology; Vacuolar Proton-Translocating ATPases / genetics

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.