Publication details

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Authors

PROCHÁZKOVÁ Dagmar HRUBA Zuzana KONECNA Petra SKOTÁKOVÁ Jarmila FAJKUSOVÁ Lenka

Year of publication 2016
Type Article in Periodical
Magazine / Source Journal of Clinical Research in Pediatric Endocrinology
MU Faculty or unit

Faculty of Medicine

Citation
Doi http://dx.doi.org/10.4274/jcrpe.3021
Field Endocrinology, diabetology, metabolism, nutrition
Keywords Wolfram syndrome; genotype; phenotype
Attached files
Description 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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