title: A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.
abstract: 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.
authors.affiliation: Medical Faculty of Masaryk University and University Hospital Brno, Department of Pediatrics, Brno, Czech Republic, Phone: +420 532 234 962 E-mail: prochazkovad@fnbrno.cz.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Prochazkova
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Hruba
authors.forename: Petra
authors.initials: P
authors.lastname: Konecna
authors.forename: Jarmila
authors.initials: J
authors.lastname: Skotakova
authors.forename: Lenka
authors.initials: L
authors.lastname: Fajkusova
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D014929:Wolfram Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein