Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

ABSTRACT:

Purpose

Localized autosomal recessive hypotrichosis (LAH) has been associated with pathogenic variants in DSG4, encoding a desmosomal protein as well as in LIPH and LPAR6, encoding respectively lipase H, which catalyzes the formation of 2-acyl-lysophosphatidic acid (LPA), and lysophosphatidic acid receptor 6, a receptor for LPA. LPA promotes hair growth and differentiation. In this study we aimed at delineating the genetic basis of LAH in patients without pathogenic variants in these three genes.

Methods

Variant analysis was conducted using exome and direct sequencing. We then performed quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunofluorescence staining, immunoblotting, enzymatic, and coimmunoprecipitation assays to evaluate the consequences o

SUBMITTER: Malki L 

PROVIDER: S-EPMC7405639 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature