A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
Language English Country Turkey Media print-electronic
Document type Case Reports, Journal Article
PubMed
27217304
PubMed Central
PMC5198010
DOI
10.4274/jcrpe.3021
Knihovny.cz E-resources
- MeSH
- Genetic Predisposition to Disease genetics MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Mutation, Missense * MeSH
- DNA Mutational Analysis MeSH
- Child, Preschool MeSH
- Wolfram Syndrome diagnosis genetics MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Membrane Proteins MeSH
- wolframin protein MeSH Browser
Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type 3 (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris, and cataract with corneolenticular adhesion), congenital glaucoma, megalocornea, severe hearing impairment, a one-sided deformity of the auricle with atresia of the bony and soft external auditory canal, non-differentiable eardrum, missing os incus, hypothyreosis, and nephrocalcinosis. Molecular-genetic examinations revealed a de novo mutation p.(Glu809Lys) in the WFS1 gene. No mutations were detected in the biological parents. The mutation p.(Glu809Lys) in the WFS1 gene is associated with WFSL.
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