Loss-of-function mutations of SCN10A encoding Na_V1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

ABSTRACT: Human kidney stone disease (KSD) causes significant morbidity and public health burden worldwide. The etiology of KSD is heterogeneous, ranging from monogenic defects to complex interaction between genetic and environmental factors. However, the genetic defects causing KSD in the majority of affected families are still unknown. Here, we report the discovery of mutations of SCN10A, encoding Na_V1.8 α subunit of voltage-gated sodium channel, in families with KSD. The region on chromosome 3 where SCN10A locates was initially identified in a large family with KSD by genome-wide linkage analysis and exome sequencing. Two mutations (p.N909K and p.K1809R) in the same allele of SCN10A co-segregated with KSD in the affected family. Additional mutation (p.V1149M) of SCN10A was identified i

SUBMITTER: Nettuwakul C 

PROVIDER: S-EPMC6041274 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature