A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

ABSTRACT:

Background

Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene.

Objective

The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers.

Methods

In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers.

Results

The affected individuals presented the classical EDSS1 clinical features i

SUBMITTER: Hajra B 

PROVIDER: S-EPMC10404504 | biostudies-literature | 2023 Sep-Oct

REPOSITORIES: biostudies-literature