[两个具有共同祖先的常染色体显性非综合征性听力障碍家族中MYH14基因的c.359T>C突变]
[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor].
作者信息
Yang Rong, Li Hu, Zhan Cheng-xiong, Mao Hai-yan, Zhan Tai-lan, Zhu Zheng-feng, Liu Ping, Yuan Wen-lin, Ke Tie, Wang Qing, Liu Mu-gen, Tang Zhao-hui
机构信息
Key Laboratory of Molecular Biophysics of Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):259-62. doi: 10.3760/cma.j.issn.1003-9406.2010.0.005.
OBJECTIVE
To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).
METHODS
Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.
RESULTS
The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13.33. A heterozygous transition of c. 359T>C (p.S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families.
CONCLUSION
It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.
目的
鉴定两个常染色体显性非综合征性听力损失（NSHI）中国家系的基因突变。
方法
通过临床检查和家系调查确定了两个有共同祖先的NSHI家系。对所有已知的NSHI位点进行连锁分析，采用聚合酶链反应（PCR）扩增非肌肉肌球蛋白重链14（MYH14）基因的所有外显子及外显子-内含子边界，并进行测序。
结果
这两个家系的致病基因被精细定位于19q13.33上的DFNA4位点。在MYH14基因中鉴定出c. 359T>C（p.S120L）的杂合转换突变。该突变在两个家系的所有患者中均被检测到，而正常成员中未检测到。
结论
首次报道MYH14基因的突变可导致亚洲人群的显性非综合征性听力损失，提示MYH14基因可能是中国听力损失患者的致病基因。
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