Variants of <em>WFS1</em> identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report

Tang,Yong; Shao,Xiaoshan; Ying,Bei; Qiu,Jie; Zheng,Shasha; Liu,Yuanhui; Zhang,Xiaochan; Li,Yuhong

doi:10.3892/br.2023.1650

Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report

Authors:
- Yong Tang
- Xiaoshan Shao
- Bei Ying
- Jie Qiu
- Shasha Zheng
- Yuanhui Liu
- Xiaochan Zhang
- Yuhong Li
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Affiliations: Department of Nephrology, Guiyang Maternal and Child Health Care Hospital, Guiyang, Guizhou 550003, P.R. China, Department of Nephrology, Guiyang Maternal and Child Health Care Hospital, Guiyang, Guizhou 550003, P.R. China
Published online on: August 23, 2023 https://doi.org/10.3892/br.2023.1650
Article Number: 68
Copyright: © Tang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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.

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