Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe.
- Author:
Rui-Ming SHI
1
;
Xu-Hua BIAN
;
Li-Min LI
;
Xiao-Hong LIU
Author Information
1. Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China. liuxiaoh@mail.xjtu.edu.cn.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Humans;
Infant;
Male;
Mutation, Missense;
Oculocerebrorenal Syndrome;
genetics;
Phosphoric Monoester Hydrolases;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2014;16(4):366-369
- CountryChina
- Language:Chinese
-
Abstract:
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which resulted in the change of His (H) 507 to Arg (R). The patient's mother was the carrier of the heterozygous mutation in X-chromosome. To our knowledge, H507R mutation in OCRL gene has not been reported in Chinese people.
