c.2425G & gt;A mutation in the WFS1 gene associated with Wolfram syndrome: a case report

AbstractWolfram syndrome is a rare hereditary disease characterized by clinical congenital progressive hearing impairment, diabetes mellitus, optic atrophy, and diabetes insipidus. A girl at the age of 35  months with diabetes mellitus was diagnosed as incomplete Wolfram syndrome; the patient also had optic atrophy, deafness, and diabetes mellitus. Molecular genetic examinations revealed a de novo mutation (c.2425G>A) in theWFS1 gene. No mutations were detected in the biological parents. The mutation c.2425G>A in theWFS1 gene is associated with the occurrence of Wolfram syndrome. This newly discovered mutation in theWFS1 gene may contribute to the diagnosis of Wolfram syndrome.
Source: International Journal of Diabetes in Developing Countries - Category: Endocrinology Source Type: research