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[Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].

Ruiming Shi、Xu-Hua Bian、Limin Li、Xiaohong Liu

2014PubMedBiochemistry, Genetics and Molecular Biology被引 1

摘要

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.

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