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学科主题: 临床医学
题名:
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family
作者: Gao, Juanjuan1; Wang, Qi1; Dong, Cheng1; Chen, Siqi1; Qi, Yu2; Liu, Yuhe1
刊名: PLOS ONE
发表日期: 2015-07-21
DOI: 10.1371/journal.pone.0133522
卷: 10, 期:7
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: HEARING-LOSS ; INDUCED APOPTOSIS ; DNA-REPLICATION ; HAIR-CELLS ; MUTATION ; LOCALIZATION ; EXPRESSION ; COMPLEX ; INNER ; OVEREXPRESSION
英文摘要:

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of eukaryotic genome replication. This missense variant is very likely to be the disease causing variant. It segregated with hearing loss in this pedigree, and was not found in the dbSNP database or databases of genomes and SNP in the Chinese population, in 76 patients with sporadic hearing loss, or in 145 normal individuals. We performed western blot and immunofluorescence to test the MCM2 protein expression in the cochlea of rats and guinea pigs, demonstrating that MCM2 was widely expressed in the cochlea and was also surprisingly expressed in the cytoplasm of terminally differentiated hair cells. We then transiently expressed the variant MCM2 cDNA in HEK293 cells, and found that these cells displayed a slight increase in apoptosis without any changes in proliferation or cell cycle, supporting the view that this variant is pathogenic. In summary, we have identified MCM2 as a novel gene responsible for nonsyndromic hearing loss of autosomal dominant inheritance in a Chinese family.

语种: 英语
所属项目编号: 81271083 ; 81470691
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000358547600109
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60425
Appears in Collections:北京大学第一临床医学院_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Otolaryngol Head & Neck Surg, Beijing 100871, Peoples R China
2.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100871, Peoples R China

Recommended Citation:
Gao, Juanjuan,Wang, Qi,Dong, Cheng,et al. Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family[J]. PLOS ONE,2015,10(7).
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