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.
SHI Rui-Ming,BIAN Xu-Hua,LI Li-Min et al. Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe[J]. CJCP, 2014, 16(4): 366-369.
SHI Rui-Ming,BIAN Xu-Hua,LI Li-Min et al. Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe[J]. CJCP, 2014, 16(4): 366-369.
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