The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.

ABSTRACT: Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population. Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent detailed clinical evaluations. Furthermore, Sanger sequencing and cosegregation analyses were performed within families. Results: Five patients with WS1 were identified in four unrelated families, and their clinical features were reviewed in detail. Seven variants of WFS1 were detected, including three reported variants (p.G674R, p.Tyr508Cysfs*34, and p.G702D) and four novel variants (p.W540G, p.K634*, p.F770C, and p.Q584P). Furthermore, the variant p.G674R was

SUBMITTER: Wang DD 

PROVIDER: S-EPMC6887651 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature