Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients.

ABSTRACT:

Background

Kindler Syndrome (KS, OMIM #173650), a rare autosomal recessive genetic disorder, is characterized by a spectrum of symptoms such as cutaneous fragility, blistering, photosensitivity, and mucosal involvement. These symptoms result from variations in the FERMT1 gene (Fermitin family member 1, OMIM: 607900), encoding kindlin-1, an essential component of focal adhesions.

Objective

This study aims to ascertain the potential pathogenicity of a FERMT1 variant identified in a Chinese patient and to explore the phenotypic and molecular genetic characteristics of all reported cases of Kindler Syndrome in the Chinese population.

Methods

Whole-exome sequencing (WES) was performed on the patient to identify candidate variants associated with KS, and Sange

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC11415864 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature