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学科主题: 临床医学
题名:
Novel OCRL mutations in Chinese children with Lowe syndrome
作者: 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
发表日期: 2013-02-01
DOI: 10.1007/s12519-013-0406-4
卷: 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
所属项目编号: 30801252 ; 81070545 ; 7102148 ; 2006BAI05A07 ; 2012BAI03B02
项目资助者: 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
WOS记录号: WOS:000314680200009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55114
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: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
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.
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