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学科主题: 临床医学
题名:
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene
作者: Li, Xiaoxin; Ma, Xiang; Tao, Yong
刊名: MOLECULAR VISION
发表日期: 2007-06-07
卷: 13, 期:88, 页:804-812
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]: XLRS1 GENE ; ELECTRORETINOGRAM ; EXPRESSION
英文摘要:

Purpose: To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene.

Methods: Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 controls. The coding regions of the RS1 gene that encodes retinoschisin were amplified by polymerase chain reaction and directly sequenced.

Results: Of the 29 male participants, 28 (96.6%) displayed typical foveal schisis. Eleven different RS1 mutations were identified in 12 families; four of these mutations, two frameshift mutations (26 del T of exon 1 and 488 del G of exon 5), and two missense mutations (Asp145His and Arg156Gly) of exon 5, had not been previously described. One non-disease-related polymorphism (NSP): 576C to T (Pro192Pro) change was also newly reported herein. We compared genotypes and observed more severe clinical features in families with the following mutations: frameshift mutation (26 del T) of exon 1, the splice donor site mutation (IVS1+2T to C),or Arg102Gln, Arg209His, and Arg213Gln mutations.

Conclusions: Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. The wide variability in the phenotype in Chinese patients with XLRS and different mutations in the RS1 gene is described. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS.

语种: 英语
WOS记录号: WOS:000247787500001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51863
Appears in Collections:北京大学第二临床医学院_眼科_期刊论文

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作者单位: Peking Univ, Dept Ophthalmol, Peoples Hosp, Beijing 100044, Peoples R China

Recommended Citation:
Li, Xiaoxin,Ma, Xiang,Tao, Yong. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene[J]. MOLECULAR VISION,2007,13(88):804-812.
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