Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

ABSTRACT:

Purpose

To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a Chinese cohort and to report their clinical and genetic features.

Methods

We recruited 24 unrelated patients with suspected WFS1 who carried at least one variant in WFS1. All patients underwent ophthalmic examinations and comprehensive molecular genetic analyses, including Sanger-DNA sequencing of WFS1 and next-generation sequencing of the whole WFS1 sequence.

Results

We identified 38 distinct pathogenic variants of WFS1 in the 24 probands, comprising 23 patients with biallelic variants and one patient with a monoallelic variant. Sanger-DNA sequencing of WFS1 initially detected 35 variants, and subsequent whole genome sequencing revealed three missing variants: one novel deep

SUBMITTER: Zhang X 

PROVIDER: S-EPMC9482318 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature