OBJECTIVETo identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome (also called Lowe syndrome).

METHODSClinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents. All of the 24 exons and intron-exon splice sites of OCRL gene were amplified with PCR. Mutations were detected by direct sequencing the PCR products.

RESULTSThe infant was found to have carried a c.1499G>A (p.R500Q) mutation in exon 15 of the OCRL gene, which was transmitted from his mother, who was heterozygous for the same mutation. The c.1499G>A mutation, discovered in Chinese population for the first time, has been reported to cause severe Lowe syndrome in other ethnic populations.

CONCLUSIONThe c.1499G>A mutation of the OCRL gene is probably responsible for the disease in the patient. Further study of this mutation may facilitate delineation of the genotype-phenotype correlation of this disease.