Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease. The condition is also known as 'diabetes insipidus, diabetes mellitus (DM), optic atrophy (OA) and deafness', with early onset DM and OA as the usual initial manifestations in childhood. The present study reports a case of WS1 in a 3.5-year-old boy. The clinical characteristics of the patient were collected from medical records. Based on the clinical findings, a diagnosis of renal failure, moderate ammonia and congenital heart disease was considered. A diagnosis of WS1 was also suspected, as an abnormal plasma glucose level and retinitis pigmentosa were found. Whole exome sequencing was therefore performed for the differential diagnosis. Two homozygous variants in the wolframin endoplasmic reticulum transmembrane glycoprotein (WFS1) gene, which were classified as likely pathogenic variants, were found and then confirmed by Sanger sequencing. The variants in WFS1 were the molecular basis of WS1. This study shows the importance of genetic diagnosis in such cases.
Keywords: DM; WES; WFS1; WS1; case report.
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