Identification of OCRL1 mutations in two taiwanese Lowe syndrome patients

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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.

Original languageEnglish
Pages (from-to)226-229+253
JournalActa Paediatrica Taiwanica
Issue number4
Publication statusPublished - 2005 Jul 1

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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