[乳头肾综合征胎儿的产前表型与致病变异分析]
[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome].
作者信息
Li Jie, Yin Shaowei, Yang Zeyu, Li Meihui, Liu Caixia, Li-Ling Jesse, Lyu Yuan
机构信息
Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):847-850. doi: 10.3760/cma.j.issn.1003-9406.2020.08.010.
OBJECTIVE
To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype.
METHODS
Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing.
RESULTS
Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant.
CONCLUSION
The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.
目的
通过产前超声检查和基因检测诊断一名患有乳头肾综合征的胎儿，并将其基因型与表型相关联。
方法
回顾胎儿的超声检查结果。采集流产胎儿的肌肉样本，通过全外显子测序（WES）筛选与临床表型相关的基因变异。通过桑格测序验证疑似致病变异。
结果
产前超声显示胎儿肾脏严重发育不良和羊水过少。WES显示胎儿携带PAX2基因的c.736G>T（p.Glu246Ter）无义变异，此前未见报道。桑格测序结果与WES一致。胎儿的父母均为野生型，提示胎儿变异为新发。
结论
PAX2基因新的杂合c.736G>T（p.Glu246Ter）变异可能是胎儿乳头肾综合征的病因。上述发现为遗传咨询和临床决策提供了依据。
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