A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis.

ABSTRACT: We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in the TACSTD2 gene. This mutated gene was devoid of its original function in helping the claudin (CLDN) 1 and 7 proteins transfer from the cytoplasm to the plasma membrane.

SUBMITTER: Nagahara Y 

PROVIDER: S-EPMC6804947 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature