A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

作者：Li, Min; Liu, Jia; Yi, Huan; Xu, Li; Zhong, Xiufeng^*; Peng, Fuhua^*

来源：BMC Pediatrics, 2018, 18(1): 116.

DOI：10.1186/s12887-018-1091-1

• Wolfram syndrome
• WFS1 gene
• Mutation

Background: Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies.
Case presentation: Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis. Finally he was diagnosed with WS because of diabetes mellitus (DM) and optic atrophy (OA). Eight exons and flanking introns of WFS1 gene were analyzed by sequencing. A novel mutation c.1760G > A in WFS1 gene of exon 8 was identified.
Conclusion: This report reviews a case of WS associated with a novel mutation, c.1760G > A in WFS1 gene of exon 8, and emphasizes that WS should be taken into account for juveniles with visual loss and diabetes mellitus.

• 出版日期2018-3-17
• 单位中山大学; 眼科学国家重点实验室