A novel c.2326G>A KIT pathogenic variant in piebaldism.

ABSTRACT:

Introduction

Piebaldism is a rare autosomal dominant disorder characterized by congenital patchy depigmentation of the scalp, forehead, trunk, and limbs. The KIT gene is the mainly causative gene to this disease. But how KIT is involved in piebaldism remains unclear.

Methods

Whole exome sequencing was used to explore the genetic cause of a familial case of piebaldism. Sanger sequencing was used to validate the variant. To further examine the variant's pathogenicity, the wild type and the mutated KIT plasmids were constructed and transfected into HEK293T cells. Next STAT5 expression, a signaling target of KIT, was detected by western blotting to explore the potential molecular mechanism of the variant in piebaldism. Based on the classification of the give

SUBMITTER: Shi W 

PROVIDER: S-EPMC7653609 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature