title: [Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].
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.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China. liuxiaoh@mail.xjtu.edu.cn.
authors.forename: Rui-Ming
authors.initials: RM
authors.lastname: Shi
authors.forename: Xu-Hua
authors.initials: XH
authors.lastname: Bian
authors.forename: Li-Min
authors.initials: LM
authors.lastname: Li
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Liu
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human