Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.

ABSTRACT:

Background

Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes KRT81, KRT83, or KRT86. Interestingly, an autosomal recessive (AR) form of monilethrix with variants in DSG4 gene has also been reported in recent years.

Objective

To identify causative variants in Chinese patients with autosomal recessive (AR) form of monilethrix.

Methods

Three families with AR form of monilethrix were observed and sequence variant analysis of DSG4 was performed by polymerase chain reaction (PCR), quantitative real-time PCR, and DNA sequencing.

Results

All the patients had sparse, fragile hair invo

SUBMITTER: Zhou C 

PROVIDER: S-EPMC9000931 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature