title: Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multisystem disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. The OCRL1 gene responsible for Lowe syndrome has been mapped to chromosome Xq24-q26. We analyzed two Taiwanese OCRL patients and their families. In Case 1, a splicing mutation (889-11 G --> A) was identified in intron 10 of the OCRL1 gene. The mother is a heterozygous carrier. The 889-11 G --> A mutation results in an abnormal splicing and predicts premature termination of translation. In Case 2, a novel de novo missense mutation (1373G --> A, P458H) was identified in exon 14 of the OCRL1 gene. The missense mutation predicts a substitution in a domain highly conserved among the inositol-5-phosphatase family.
authors.affiliation: Department of Pediatrics, National Cheng-Kung University Hospital, College of Medicine National Cheng Kung University, 138 Sheng-Li Road, Tainan, Taiwan.
authors.forename: Yen-Yin
authors.initials: YY
authors.lastname: Chou
authors.forename: Sheau-Chiou
authors.initials: SC
authors.lastname: Chao
authors.forename: Yuan-Yow
authors.initials: YY
authors.lastname: Chiou
authors.forename: Shio-Jean
authors.initials: SJ
authors.lastname: Lin
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D013624:Taiwan
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human