A novel OCRL1 mutation in a Chinese child with Lowe syndrome

作者:Tian, Xin; Zou, He; Xing, Jie; Che, Guanghua; Tian, Jing; Zhang, Yunfeng*
来源:International Journal of Clinical and Experimental Medicine, 2016, 9(8): 16907-16912.

摘要

Lowe syndrome, also known as oculocerebrorenal syndrome of Lowe (OCRL), is a rare X-linked recessive genetic disease characterized by multisystem involvement including congenital cataracts, infantile hypotonia, mental retardation and renal tubular dysfunction. Lowe syndrome is caused by mutation of OCRL1 gene localized at Xq25-26.1, which encodes a phosphatidyl inositol 4,5 biphosphate phosphatase. We report a 4-month-old boy with congenital cataracts, hypotonia, delayed motor developmental milestone, tendon hyporeflexia, proteinuria and aminoaciduria. OCRL1 gene mutation analysis showed a novel frame shift mutation, c.2441-2442delCT, p. (Ser814fs), in exon 21. This pathogenic mutation was predicted to cause the presence of premature termination codons and produce truncated OCRL1 protein. The mother of this patient was a heterozygous carrier.