Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome | Orphanet Journal of Rare Diseases | Full Text

Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

• Youjia Zhang, 
• Lili Feng, 
• Xiangmei Kong, 
• Jihong Wu, 
• Yuhong Chen & 
• Guohong Tian 

Orphanet Journal of Rare Diseasesvolume 14, Article number: 190 (2019) | Download Citation

Abstract

Background

Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CISD2 are two main causing genes of WFS. The aim of this study was to illustrate the ophthalmologic manifestations and determine the genotype of Chinese WFS patients.

Results

Completed ophthalmic examinations and family investigations were performed on 4 clinically diagnosed WFS patients from 4 unrelated families. Genetic testing was done by the next generation sequencing of candidate genes. One patient carried a homozygous mutation (c.272_273del) in CISD2, two patients carried compound heterozygous mutations (c.1618 T > G + c.2020G > A and c.1048 T > A + c.2020G > A) in WFS1, and one patient carried a heterozygous mutation (c.937C > T) in WFS1. Three of them were novel mutations.

Conclusions

Our study indicated WFS in Chinese is a neurodegenerative disease with both wide spectrum of clinical features and genetic heterogeneity. We found three novel mutations in WFS patients, and to our best knowledge, this is the first report of Chinese WFS patient with mutation in CISD2.