Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

ABSTRACT:

Background

Ectodermal dysplasia (ED) is a rare genetic disorder that affects structures derived from the ectodermal germ layer.

Results

In this study, we analyzed the genetic profiles of 27 Korean patients with ED. Whole exome sequencing (WES) was performed on 23 patients, and targeted panel sequencing was conducted on the remaining 4 patients. Among the patients in the cohort, 74.1% (20/27) tested positive for ED. Of these positive cases, EDA and EDAR mutations were found in 80% (16/20). Notably, 23.1% (3/13) of EDA-positive cases exhibited copy number variations. Among the 23 patients who underwent WES, we conducted a virtual panel analysis of eight well-known genes, resulting in diagnoses for 56.5% (13/23) of the cases. Additionally, further analysis of approximately 5,00

SUBMITTER: Kim MJ 

PROVIDER: S-EPMC11380769 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature