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学科主题: 临床医学
题名:
Mutation analysis of two families with inherited congenital cataracts
作者: Liang, Chang1,2,3; Liang, Han4; Yang, Yu1,2,3; Ping, Liu1,2,3; Jie, Qiao1,2,3
关键词: cataract ; mutation ; CRYAA ; GJA8
刊名: MOLECULAR MEDICINE REPORTS
发表日期: 2015-09-01
DOI: 10.3892/mmr.2015.3819
卷: 12, 期:3, 页:3469-3475
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Oncology ; Medicine, Research & Experimental
研究领域[WOS]: Oncology ; Research & Experimental Medicine
关键词[WOS]: ALPHA-A-CRYSTALLIN ; AUTOSOMAL-DOMINANT CATARACT ; GAP-JUNCTIONS ; CELL-DEATH ; CONNEXIN ; GJA8 ; CRYAA ; LEADS ; DISRUPTION ; NUCLEAR
英文摘要:

The present study aimed to identify the genetic mutations in two families affected with congenital cataracts. Detailed family histories and clinical data of the family members were recorded. The family members with affected phenotypes were recruited, and candidate gene sequencing was performed to determine the disease-causing mutation. Bioinformatics analysis was performed to predict the function of the mutant gene. Green fluorescent protein-tagged human wild-type CRYAA and GJA8 were sub-cloned, and the mutants were generated by site-directed mutagenesis. A novel mutation, c.416T>C (p.L139P), in CRYAA and a known mutation, c.139G>A (p.D47N), in GJA8 were identified. These mutations co-segregated with all affected individuals in each family and were not observed in the unaffected family members or in unrelated controls. The results of the bioinformatics analysis indicated that the amino acid at position 139 was highly conserved and that the p.L139P mutation was predicted to be damaging, as with p.D47N. Finally, overexpression of the two mutants revealed marked alterations, compared with the wild-type proteins. These results extend the mutation spectrum of CRYAA and provides further evidence that the p.D47N mutation in GJA8 is a hot-spot mutation.

语种: 英语
所属项目编号: 2014CB943203 ; Z131100005213006
项目资助者: National Basic Research Program of China (973 Program) ; Special program of advanced technology of Beijing City Science Committee
WOS记录号: WOS:000359933900034
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66132
Appears in Collections:北京大学第三临床医学院_期刊论文

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作者单位: 1.Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100191, Peoples R China
2.Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China
3.Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China
4.Peking Univ, Hosp 3, Dept Ophthalmol, Beijing 100191, Peoples R China

Recommended Citation:
Liang, Chang,Liang, Han,Yang, Yu,et al. Mutation analysis of two families with inherited congenital cataracts[J]. MOLECULAR MEDICINE REPORTS,2015,12(3):3469-3475.
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