A case of BMP2 gene variation-caused short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomaly syndrome
10.3760/cma.j.cn113903-20220429-00427
- VernacularTitle:BMP2基因变异致身材矮小、面部畸形和骨骼异常伴或不伴心脏异常综合征1例
- Author:
Huili XUE
1
;
Min LIN
;
Qun GUO
;
Hailong HUANG
;
Liangpu XU
Author Information
1. 福建省妇幼保健院医学遗传诊疗中心（福建省产前诊断与出生缺陷重点实验室），福州 350001
- Keywords:
Pierre robin syndrome;
Bone morphogenetic protein 2;
Whole exome sequencing;
Cleft palate;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2023;26(2):155-158
- CountryChina
- Language:Chinese
-
Abstract:
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.
