WFS1基因错义突变继发的糖尿病和先天性听力障碍的常染色体显性遗传。
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.
作者信息
Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B
机构信息
Department of Nutrition, Metabolic Diseases, Endocrinology, University of Aix-Marseille 2, La Timone Hospital, Marseille, France.
出版信息
Diabet Med. 2008 Jun;25(6):657-61. doi: 10.1111/j.1464-5491.2008.02448.x.
AIMS
Mutations of the WFS1 gene have been implicated in autosomal dominant diseases, such as low-frequency sensorineural hearing impairment (LFSNHI) and/or diabetes mellitus and/or optic atrophy. The aim was to investigate WFS1 gene sequences in a family with diabetes mellitus and hearing impairment.
METHODS
Three members of a family with a maternally inherited combination of diabetes mellitus and hearing impairment, but no specific mutations in its mitochondrial genome, were investigated for mutations in the WFS1 gene.
RESULTS
This pedigree, in which the proband had non-insulin-dependent diabetes mellitus and congenital hearing impairment and his mother a triple combination of diabetes mellitus, hearing impairment and optic atrophy, was found to be associated with autosomal dominant transmission of the E864K mutation of the WFS1 gene.
CONCLUSIONS
In the light of this confirmatory study, we recommend the systematic analysis of WFS1 gene sequences in patients with parentally inherited diabetes mellitus and deafness (+/- optic atrophy), in particular when diabetogenic mtDNA mutations have been excluded.
目的
WFS1基因的突变与常染色体显性疾病有关，如低频感音神经性听力减退（LFSNHI）和/或糖尿病和/或视神经萎缩。本研究旨在调查一个患有糖尿病和听力减退的家族中的WFS1基因序列。
方法
对一个家族中的三名成员进行研究，该家族中糖尿病和听力减退由母亲遗传，但其线粒体基因组无特定突变，检测其WFS1基因的突变情况。
结果
该谱系中，先证者患有非胰岛素依赖型糖尿病和先天性听力减退，其母亲患有糖尿病、听力减退和视神经萎缩三联征，发现与WFS1基因E864K突变的常染色体显性遗传有关。
结论
鉴于本验证性研究，我们建议对患有父母遗传的糖尿病和耳聋（±视神经萎缩）的患者进行WFS1基因序列的系统分析，特别是在排除致糖尿病的线粒体DNA突变时。
Zotero 插件