摘要
本文报道对1个连续2次妊娠中孕期超声均提示小下颌、腭裂家系的遗传学分析。孕妇第1次妊娠足月经阴道分娩一男婴。该婴儿于生后2周夭折, 确诊为Pierre Robin序列征(Pierre Robin sequence, PRS), 其染色体核型、基因组拷贝数变异未见异常, 未行遗传学病因检测。本次妊娠Ⅲ级彩超检查提示胎儿腭裂、小下颌及羊水过多等, 疑诊PRS, 要求产前遗传学病因诊断。胎儿染色体核型及基因组拷贝数变异未见异常, 胎儿家系全外显子组测序、生物信息学分析及家系Sanger测序验证结果提示胎儿及胎儿哥哥BMP2基因均存在遗传自母亲的c.79delG p.E27Sfs*24可能致病性变异。经咨询, 孕妇选择终止妊娠。因连续2次妊娠胎儿表型相似, 结合其遗传学病因分析, 提示BMP2基因c.79delG p.E27Sfs*24杂合变异是该家系连续2次妊娠胎儿表型异常的致病原因。
This article reported the genetic analysis of a case diagnosed with fetal micrognathia and cleft palate by mid-trimester ultrasound in two consecutive pregnancies.In the first pregnancy,the pregnant woman delivered a full-term boy transvaginally,who died two weeks after birth and was diagnosed with Pierre Robin sequence(PRS).Chromosome karyotype and genomic copy number variation.In the second pregnancy,the woman underwent amniocentesis due to suspected PRS presenting by fetal cleft palate,micrognathism,and additional ultrasound anomalies.No abnormalities were detected in fetal karyotype or genomic copy number variation.Whole-exome sequencing,bioinformatics analysis,and Sanger sequencing suggested that both the fetus and the firstborn boy inherited a possible pathogenic variant of c.79delG p.E27Sfs*24 in the BMP2 gene from the mother.The pregnancy was terminated after the genetic consultation.Fetal phenotypes in the two fetuses were similar,indicating that short stature,facial dysmorphism,and skeletal anomalies with or without cardiac anomaly in the pedigree were caused by the heterozygous variant of c.79delG p.E27Sfs*24 in the BMP2 gene.
作者
薛会丽
林敏
郭群
黄海龙
徐两蒲
Xue Huili;Lin Min;Guo Qun;Huang Hailong;Xu Liangpu(Medical Genetic Diagnosis and Therapy Center(Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect),Fujian Maternity and Child Health Hospital,Fuzhou 350001,Chin)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2023年第2期155-158,共4页
Chinese Journal of Perinatal Medicine
基金
福建省科技创新联合资金项目(2020Y9149)
福建省卫生健康中青年骨干人才培养项目(2021GGA051)
福建省自然科学基金面上项目(2022J01421)。
