关键词: 眼脑肾综合征, OCRL基因, 超声检查，产前, 晶体, 白内障, 产前诊断

Abstract:

Oculocerebrorenal syndrome is an X-linked recessive genetic disorder caused by the absence or mutation of the OCRL gene, which leads to a deficiency in OCRL1 protein expression and a decrease in phosphatidylinositol 5-phosphatase activity, resulting in abnormal accumulation of substrate phosphatidylinositol-4,5-bisphosphate. This leads to the triad of ocular symptoms, severe intellectual disability, abnormal renal tubular function accompanied by chronic progressive renal failure. This disease lacks effective treatment methods and has a poor prognosis. We report a case of a fetus with enhanced bilateral lens echoes detected by prenatal ultrasound at 23⁺³ weeks of gestation in a 35 years old pregnant woman. Through genomic copy number variation sequencing and whole exome sequencing, it was found that the fetal Xq25q26.1 region was missing 741.71 kb and the OCRL gene was completely absent. The disease was ultimately diagnosed as oculocerebrorenal syndrome, and the pregnancy was terminated at 27⁺² weeks. Most of child patients were diagnosed after birth, and the life quality was poor, imposing a heavy burden on families and society. Therefore, clinical attention should be paid to abnormal manifestations of prenatal ultrasound, and prenatal genetic diagnosis should be performed promptly to make an early diagnosis, avoiding the birth of severely affected children.

Key words: Oculocerebrorenal syndrome, OCRL gene, Ultrasonography, prenatal, Lens, crystalline, Cataract, Prenatal diagnosis