A p.(glu809lys) mutation in the WFS1 gene associated with wolfram-like syndrome: A case report

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. © journal of clinical research in pediatric endocrinology.