Liu Yu-he, Ke Xiao-mei, Xiao Shui-fang
Department of Otorhinolaryngology Head and Neck Surgery, First Hospital of Peking University, Beijing 100034, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2005 Oct;40(10):764-8.
To explore the mutations of Wolfram syndrome I gene (WFS1) in families affected by non-syndromic low frequency sensorineural hearing loss (NS-LFSNHL).
Twenty eight individuals from 6 pedigrees with hereditary non-syndromic low frequency sensorineural hearing loss as a dominant trait and cases of control were collected in the present study. The coding sequence of WFS1 gene was amplified by polymerase chain reaction (PCR), and direct DNA sequencing was performed to screen the entire coding region of the WFS1 gene for mutations in the WFS1.
Three heterozygous missense mutations (2016 G-->T, 2379 G-->4A, 2766 G-->A) in the WFS1 gene were found in two families. Mutations in WFS1 were identified in all patients tested of the two pedigrees. None of the mutations was found in at least 280 control chromosomes and normal individuals of the families. These missense mutations affecting conserved amino acids in two pedigrees.
Mutations in WFS1 are one of causes of non-syndromic low frequency sensorineural hearing loss, and the majority of mutations are missense mutations. Genetic counseling and genetic testing may be useful in the management of patients with this type of hearing loss.
探讨非综合征性低频感音神经性听力损失（NS-LFSNHL）家系中沃尔夫勒姆综合征I基因（WFS1）的突变情况。
本研究收集了6个以遗传性非综合征性低频感音神经性听力损失为显性性状的家系中的28名个体以及对照病例。采用聚合酶链反应（PCR）扩增WFS1基因的编码序列，并进行直接DNA测序，以筛查WFS1基因整个编码区的突变情况。
在两个家系中发现了WFS1基因的三个杂合错义突变（2016 G→T、2379 G→4A、2766 G→A）。在这两个家系中所有检测的患者中均鉴定出WFS1基因的突变。在至少280条对照染色体以及这些家系的正常个体中均未发现这些突变。这些错义突变影响了两个家系中保守的氨基酸。
WFS1基因的突变是非综合征性低频感音神经性听力损失的病因之一，且大多数突变是错义突变。遗传咨询和基因检测可能有助于此类听力损失患者的管理。
