Ontology highlight
ABSTRACT:
SUBMITTER: Kolesnikova M
PROVIDER: S-EPMC9746905 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Kolesnikova Masha M Oh Jin Kyun JK Wang Jiali J Lee Winston W Zernant Jana J Su Pei-Yin PY Kim Angela H AH Jenny Laura A LA Yang Tingting T Allikmets Rando R Tsang Stephen H SH
JCI insight 20221208 23
Here, we describe affected members of a 2-generation family with a Stargardt disease-like phenotype caused by a 2-base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was verified through chloride channel recording using WT and transfected mutant HEK293 cells. Clinical examination of both patients revealed similar phenotypes at 2 different disease stages that were attributable to d ...[more]