Affiliation:
1. People's Hospital of Xinjiang Uygur Autonomous Region
Abstract
Abstract
Background:Wolfram syndrome is a rare autosomal recessive multisystem neurodegenerative disease, mainly with diabetes, optic atrophy, sensorineural deafness, and diabetes as the main features. Because of clinical phenotype heterogeneity, its misdiagnosed rate is high. However, early accurate diagnosis and comprehensive management is the key to improving the quality of life and prolonging life.
Results:This study reported 11 patients from 7 WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, c.G1393C) of the WFS1 gene.We further conducted expert department analysis to clarify the diagnosis and analyze the correlation between gene and phenotype.
Conclusions: We found that the genotype of the patients was closely related with the phenotype. And the genotype-phenotype correlation was analyzed combined with the clinical data of the patients, to provide the basis for the diagnosis and clinical management of the disease.
Publisher
Research Square Platform LLC
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