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

  • Liu YingEmail author
Case Report
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Abstract

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.

Keywords

Wolfram syndrome Mutation Genotype 

Notes

Compliance with ethical standards

Conflict of interest

The author declares that there is no conflict of interest.

Ethical approval

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

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Research Society for Study of Diabetes in India 2018

Authors and Affiliations

  1. 1.Department of Pediatrics, West China Second University HospitalSichuan UniversityChengduChina
  2. 2.Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of EducationSichuan UniversityChengduChina

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