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A case of BMP2 gene variation-caused short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomaly syndrome

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Journal Title:
Chinese Journal of Perinatal Medicine
Key Word:
Pierre Robin综合征;骨形态发生蛋白质2;全外显子组测对序;腭裂;产前诊断;Pierre robin syndrome;Bone morphogenetic protein 2;Whole exome sequencing;Cleft palate;Prenatal diagnosis

Abstract´╝Ü 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.

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