同一家系2例胎儿眼脑肾综合征的产前表型和基因型

Prenatal phenotype and genotype of two fetuses with Lowe syndrome from one family

本文报道了产前诊断OCRL基因变异导致的同一家系中2例眼脑肾综合征胎儿。孕妇第1次妊娠因孕28周超声提示胎儿先天性白内障、颅脑发育异常进行产前诊断,全外显子组测序检测提示胎儿样本检测到OCRL基因c.1514G>A:(p.G505E)临床意义未明变异。第2次妊娠因孕26周超声再次提示胎儿先天性白内障,行家系全外显子组测序发现相同的致病位点,致病性评级为可能致病性,经过Sanger测序验证,孕妇该位点有相同变异但表型正常,胎儿最终确诊为Lowe综合征。c.1514G>A位点变异所致临床表型未见文献报道,进一步丰富了人群OCRL基因产前表型,为研究眼脑肾综合征的基因型-表型提供了依据。

This paper reports the prenatal diagnosis of Lowe syndrome caused by OCRL gene mutation in two fetuses from one pedigree.In the first pregnancy,the woman accepted prenatal diagnosis due to ultrasonic findings of fetal congenital cataracts and abnormal brain development at 28 gestational weeks.Whole exome sequencing indicated c.1514G>A:(p.G505E)mutation in the OCRL gene in the fetus,with uncertain clinical significance.In the second pregnancy,a fetal congenital cataract was again revealed by ultrasound at 26 weeks of gestation,and the same pathogenic site was found by whole exome sequencing for the pedigree which was possible pathogenic.Sanger sequencing confirmed that the mutation was inherited from the mother with a normal phenotype.The two fetuses were diagnosed with Lowe syndrome.The phenotype caused by c.1514G>A site variation reported here enriched the prenatal phenotype of OCRL genes and provided a basis for the genotype-phenotype of this disease.