|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|
|WOS标题词||Science & Technology|
|关键词[WOS]||SYNDROME PROTEIN OCRL1 ; DENT DISEASE ; GENE ; BINDING|
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.
|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|
|作者单位||Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China|
|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.|