TY - JOUR
T1 - EXOME REPORT
T2 - Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities
AU - Shaw, Marie
AU - Winczewska-Wiktor, Anna
AU - Badura-Stronka, Magdalena
AU - Koirala, Sunita
AU - Gardner, Alison
AU - Kuszel, Łukasz
AU - Kowal, Piotr
AU - Steinborn, Barbara
AU - Starczewska, Monika
AU - Garry, Sarah
AU - Scheffer, Ingrid E.
AU - Berkovic, Samuel F.
AU - Gecz, Jozef
N1 - Publisher Copyright:
© 2019 Elsevier Masson SAS
PY - 2020/4
Y1 - 2020/4
N2 - 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.
AB - 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.
KW - ATP6V1B2
KW - Autosomal dominant inheritance
KW - Deafness-onychodystrophy syndrome
KW - Epilepsy
KW - Zimmermann-Laband syndrome
UR - http://www.scopus.com/inward/record.url?scp=85074130889&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2019.103799
DO - 10.1016/j.ejmg.2019.103799
M3 - Article
C2 - 31655144
AN - SCOPUS:85074130889
SN - 1769-7212
VL - 63
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 4
M1 - 103799
ER -