Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.

ABSTRACT:

Background

Trichilemmal cysts (TCs) are common intradermal or subcutaneous cysts, which are commonly sporadic and rarely autosomal dominantly inherited. However, little is known about the disease-determining genes in families with TCs exhibiting Mendelian inheritance.

Objective

The aim of this study was to identify the causative gene in a family with TCs.

Methods

Whole-exome sequencing was performed on a TCs family to identify the candidate gene. Sanger sequencing was conducted to validate the candidate variants and familial segregation.

Results

We identified the heterozygous variant c.3G>C (p.Met1?) within the BPIFC gene. Sanger sequencing confirmed the cosegregation of this variant with the TCs phenotype in the family by demonstrating the presence of the hete

SUBMITTER: Fu XG 

PROVIDER: S-EPMC6565563 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature