A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.

ABSTRACT:

Background

Heredity Hypotrichosis Simplex (HHS) is a rare non-syndromic disease form of Hypotrichosis Simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging despite recent advancement. In this report, we describe a 19-year old female affected with HHS alongside most of her family members.

Methods

Whole Exome Sequencing (WES) was performed for some of the family members to unravel the culprit gene involved in HHS phenotype and ascertain the dermatological examination that was done to classify the phenotypes of the disease.

Results

A novel pathogenic variant in the CDH3 gene (p.Ser223GlyfsTer4) was identified as a plausi

SUBMITTER: Kadhi A 

PROVIDER: S-EPMC9528967 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature