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

SHI Rui-Ming; BIAN Xu-Hua; LI Li-Min; LIU Xiao-Hong

doi:10.7499/j.issn.1008-8830.2014.04.011

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Chinese Journal of Contemporary Pediatrics ›› 2014, Vol. 16 ›› Issue (4) : 366-369. DOI: 10.7499/j.issn.1008-8830.2014.04.011

CLINICAL RESEARCH

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

SHI Rui-Ming, BIAN Xu-Hua, LI Li-Min, LIU Xiao-Hong

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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.

Key words

Oculocerebrorenal syndrome of Lowe / Gene / Mutation / Child

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SHI Rui-Ming, BIAN Xu-Hua, LI Li-Min, LIU Xiao-Hong. Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(4): 366-369 https://doi.org/10.7499/j.issn.1008-8830.2014.04.011

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