Identification of OCRL1 Mutations in Two Taiwanese Lowe Syndrome Patients

兩例台灣Lowe氏症候群病人之OCRL1基因突變分析

周言穎(Yen-Yin Chou) ； 趙曉秋(Sheau-Chiou Chao) ； 邱元佑(Yuan-Yow Chiou) ； 林秀娟(Shio-Jean Lin)

《Acta Paediatrica Taiwanica》 46卷4期 (2005/08) Pp. 226-229

https://doi.org/10.7097/APT.200508.0226

摘要

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.

關鍵字

Lowe氏症候群 ； OCRL1基因 ； 基因突變分析 ； 台灣人

並列摘要

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.

並列關鍵字

Lowe syndrome ； OCRL1 gene ； mutation analysis ； Taiwanese