Mutations of the WFS1 Gene in Patients with Wolfram Syndrome

• Main Authors: YANG, AI-CHEN, 楊艾珍
• Other Authors: LEE, YANN-JINN
• Format: Others
• Language: en_US
• Published: 2016
• Online Access: http://ndltd.ncl.edu.tw/handle/21038446208286242193

碩士 === 馬偕醫學院 === 生物醫學研究所 === 104 === Wolfram syndrome (WS) is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Its additional complications include renal, cerebral, and psychological dysfunctions. WS is various in the clinical course. Some WS patients may have hearing loss at high frequency and earlier onset while others have deafness at low frequency occurring relatively late. Some patients may not present four critical symptoms but have psychiatric disorder and central respiratory failure. The prevalence of WS is rare. It is a Mendelian disorder of autosomal recessive neurodegenerative abnormalities caused by mutations of the WFS1 gene. The aim of our study was to sequence and investigate mutations and polymorphisms of the WFS1 gene and to compare the clinical characters with genotypes. We studied 7 patients diagnosed with wolfram syndrome clinically and molecularly. We extract DNA from blood samples that were obtained from patients and their family. Polymerase chain reaction, DNA sequencing and analysis were performed. We identified 8 mutations and 23 polymorphisms. Among them, four mutations are novel. The patients who were homozygous for c.1999C>T (p.Q667*) had earliest onset of symptoms of diabetes mellitus, optic atrophy, hearing loss, and diabetes insipidus suggesting genotype-phenotype correlation.