[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].

Objective: Wolfram syndrome is an autosomal recessive disorder characterized by early-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. The aim of this study was to scan the WFS1 gene mutations in a Chinese Wolfram syndrome pedigree.

Methods: Eight exons and flanking introns of WFS1 gene were screened using PCR-DNA direct sequencing.