Novel pathogenic variants in KIT gene in three Chinese piebaldism patients.

ABSTRACT:

Background

Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported.

Methods

To identify KIT gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. Whole-exome sequencing was performed to detect potential disease-causing variants in the three probands. Putative variants were validated by Sanger sequencing.

Results

Heterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in KIT gene were detected in three probands. These varian

SUBMITTER: Wang C 

PROVIDER: S-EPMC9684607 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature