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学科主题临床医学
Novel OCRL mutations in Chinese children with Lowe syndrome
Zhang, Yan-Qin; Wang, Fang; Ding, Jie; Yan, Hui; Yang, Yan-Ling
关键词Cataract Dent Disease 2 Lowe Syndrome Mutations Ocrl
刊名WORLD JOURNAL OF PEDIATRICS
2013-02-01
DOI10.1007/s12519-013-0406-4
9期:1页:53-57
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pediatrics
研究领域[WOS]Pediatrics
关键词[WOS]SYNDROME PROTEIN OCRL1 ; DENT DISEASE ; GENE ; BINDING
英文摘要

Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an inositol polyphosphate-5-phosphatase. The disease is clinically characterized by congenital cataracts, psychomotor retardation, and proximal tubulopathy.

We retrospectively reviewed three unrelated Chinese patients with Lowe syndrome, clinically diagnosed by the abnormalities of eyes, nervous system, and kidneys. Genetic analysis of the OCRL gene was done for the three patients as well as their family members.

Three OCRL gene mutations were detected in our study. Two of the mutations, g.1897delT in exon 18 (patient 1) and g.1470delG in exon 15 (patient 2), were novel. A missense mutation (p.Y513C) in exon 15, which had been reported previously, was found in patient 3. The mothers of all patients were heterozygous carriers of the respective mutations.

Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified.

语种英语
WOS记录号WOS:000314680200009
项目编号30801252 ; 81070545 ; 7102148 ; 2006BAI05A07 ; 2012BAI03B02
资助机构National Nature Science Foundation ; Beijing Nature Science Foundation ; National "Eleventh Five-Year" Science and Technology Support Project ; National "Twelfth Five-Year" Science and Technology Support Project
引用统计
被引频次:4[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/400002259/55114
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Zhang, Yan-Qin,Wang, Fang,Ding, Jie,et al. Novel OCRL mutations in Chinese children with Lowe syndrome[J]. WORLD JOURNAL OF PEDIATRICS,2013,9(1):53-57.
APA Zhang, Yan-Qin,Wang, Fang,Ding, Jie,Yan, Hui,&Yang, Yan-Ling.(2013).Novel OCRL mutations in Chinese children with Lowe syndrome.WORLD JOURNAL OF PEDIATRICS,9(1),53-57.
MLA Zhang, Yan-Qin,et al."Novel OCRL mutations in Chinese children with Lowe syndrome".WORLD JOURNAL OF PEDIATRICS 9.1(2013):53-57.
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