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学科主题: 临床医学
题名:
Genotype-Phenotype Correlations in 17 Chinese Patients With Autosomal Recessive Alport Syndrome
作者: Zhang, Yanqin1; Wang, Fang1; Ding, Jie1; Zhang, Hongwen1; Zhao, Dan1; Yu, Lixia1; Xiao, Huijie1; Yao, Yong1; Zhong, Xuhui1; Wang, Suxia2
关键词: autosomal recessive Alport syndrome ; mutation ; genotype-phenotype correlation ; type IV collagen
刊名: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
发表日期: 2012-09-01
DOI: 10.1002/ajmg.a.35528
卷: 158A, 期:9, 页:2188-2193
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: BENIGN FAMILIAL HEMATURIA ; BASEMENT-MEMBRANE NEPHROPATHY ; COL4A3 GENE ; MUTATIONS ; DISEASES
英文摘要:

Autosomal recessive Alport syndrome (ARAS) results from mutations in the COL4A3 or COL4A4 gene. We analyzed the genotype and phenotype of 17 unrelated Chinese patients with ARAS. Clinical data were reviewed. All coding exons of COL4A3 and COL4A4 genes were PCR-amplified and sequenced from genomic DNA. We identified pathologic mutations in all patients, giving a mutation detection rate of 100%, with 82% in COL4A3 gene and 18% in COL4A4 gene. Sixteen novel mutations in COL4A3 gene and four novel mutations in COL4A4 gene were identified. Furthermore, a previously reported in-frame deletion mutation (40_63del24) in exon 1 of the COL4A3 gene was found in four patients in our study. A single 40_63del24 mutation in COL4A3 seems to result in mild or no renal manifestations, whereas the homozygous state of 40_63del24 in COL4A3 gene or compound heterozygous mutation of 40_63del24 plus another nonsense or frameshift mutation in COL4A3 gene seems to result severe ARAS with hearing loss. Half of the probands′ parents had hematuria with or without mild proteinuria. Therefore, we recommend that ARAS be considered when a patient has a positive family history of hematuria, and screening for COL4A3 mutations firstly may be an efficient strategy for molecular diagnosis of ARAS. (C) 2012 Wiley Periodicals, Inc.

语种: 英语
所属项目编号: 30400482 ; 81070545 ; 39970775 ; 7102148 ; 2006BAI05A07
项目资助者: National Nature Science Foundation ; Beijing Nature Science Foundation ; National "Eleventh Five-Year" Science and Technology Support Project
WOS记录号: WOS:000310068700014
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60256
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Dept Electron Microscopy, Hosp 1, Beijing 100034, Peoples R China

Recommended Citation:
Zhang, Yanqin,Wang, Fang,Ding, Jie,et al. Genotype-Phenotype Correlations in 17 Chinese Patients With Autosomal Recessive Alport Syndrome[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2012,158A(9):2188-2193.
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