IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities
Zhao, Chan1,2; Wang, Fang3; Zhang, Yanqin3; Wen, Yubing2,4; Su, Ying2,4; Zhang, Chengfen1,2; Sui, Ruifang1,2; Xu, Fei1,2; Ding, Jie3; Dong, Fangtian1,2
刊名MOLECULAR VISION
2012-08-08
18期:232-34页:2205-2212
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Ophthalmology
研究领域[WOS]Biochemistry & Molecular Biology ; Ophthalmology
关键词[WOS]LINKED ALPORT-SYNDROME ; GENOTYPE-PHENOTYPE CORRELATIONS ; LENS CAPSULE ABNORMALITIES ; GIANT MACULAR HOLE ; IV COLLAGEN ; ANTERIOR LENTICONUS ; NATURAL-HISTORY ; 195 FAMILIES ; MANIFESTATIONS ; INACTIVATION
英文摘要

Purpose: To describe an unusual ocular phenotype in a Chinese female patient with X-linked Alport syndrome (XLAS), and to characterize the type IV collagen alpha 5 (COL4A5) gene mutation in the patient and her son.

Methods: Detailed ophthalmologic examinations and optical coherence tomography were performed in the patient and her family members. For gene analysis of COL4A5, the entire coding region of COL4A5 mRNA from cultured skin fibroblast was analyzed by using reverse-transcription-polymerase chain reaction (RT-PCR) and direct sequencing, and genomic DNA was analyzed by using PCR and direct sequencing.

Results: The patient presented with progressive myopia at age 14 and bilateral giant macular holes (about 2 disc diameter) at age 28. At age 33 when presented to our hospital, slit lamp examination of the anterior segment showed bilateral anterior and posterior lenticonus; fundus photography and optical coherence tomography showed bilateral giant macular holes which were larger than photographed at age 28. Electron microscopy of renal biopsy showed irregular thinned and thickened areas of the glomerular basement membrane with splitting of the lamina densa. Her son was then found to have hematuria (at age 3), and indirect immunofluorescence of the epidermal basement membrane showed negative staining for the collagen alpha 5(IV) chain. However, the ophthalmological examinations of her son were unremarkable. A novel COL4A5 mutation g. 4400_4400+1del, leading to an indel in exon 45 (r. 4198delins4198+2_4198+72), was detected in the patient and her son. This mutation produces a shift in the reading frame, resulting in a missense sequence of 13 codons followed by a premature stop codon. Her mother was not affected with the mutation.

Conclusions: Our report extends the phenotypic and genotypic spectrum of X-linked Alport syndrome.

语种英语
WOS记录号WOS:000307437400002
项目编号7102148 ; CD-CL-0808-0470-PUMCH
资助机构Beijing Nature Science Foundation ; Ministry of Human Resources and Social Security of the People&prime ; s Republic of China ; Foundation Fighting Blindness, USA
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63388
专题北京大学第一临床医学院_儿科
作者单位1.Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing 100730, Peoples R China
2.Peking Union Med Coll, Beijing 100021, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
4.Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Nephrol, Beijing 100730, Peoples R China
推荐引用方式
GB/T 7714
Zhao, Chan,Wang, Fang,Zhang, Yanqin,et al. A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities[J]. MOLECULAR VISION,2012,18(232-34):2205-2212.
APA Zhao, Chan.,Wang, Fang.,Zhang, Yanqin.,Wen, Yubing.,Su, Ying.,...&Dong, Fangtian.(2012).A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.MOLECULAR VISION,18(232-34),2205-2212.
MLA Zhao, Chan,et al."A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities".MOLECULAR VISION 18.232-34(2012):2205-2212.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Zhao, Chan]的文章
[Wang, Fang]的文章
[Zhang, Yanqin]的文章
百度学术
百度学术中相似的文章
[Zhao, Chan]的文章
[Wang, Fang]的文章
[Zhang, Yanqin]的文章
必应学术
必应学术中相似的文章
[Zhao, Chan]的文章
[Wang, Fang]的文章
[Zhang, Yanqin]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。