c.2425G>A mutation in the WFS1 gene associated with Wolfram syndrome: a case report
- 21 Downloads
Wolfram 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 the WFS1 gene. No mutations were detected in the biological parents. The mutation c.2425G>A in the WFS1 gene is associated with the occurrence of Wolfram syndrome. This newly discovered mutation in the WFS1 gene may contribute to the diagnosis of Wolfram syndrome.
KeywordsWolfram syndrome Mutation Genotype
Compliance with ethical standards
Conflict of interest
The author declares that there is no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
- 4.Peden NR, Gay JD, Jung RT, Kuwayti K. Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. Q J Med. 1986;58:67–80.Google Scholar
- 10.Fang Q-c, Jia W-p, Zhang R, Li Q, Hu C, Shao X-y, et al. A novel mutation of WPS1 gene in Chinese patients with Wolfram syndrome. Natl Med J China. 2005;35:2468–71.Google Scholar
- 14.Fabbri LP, Nucera M, Grippo A, Menicucci A, De Feo ML, Becchi C, et al. Wolfram syndrome: how much could knowledge challenge the fate? A case report. Med SciMonit. 2005;7:CS40–4.Google Scholar