Nonsense variation of OTUD5 gene in a fetus with X-linked multiple congenital anomalies- neurodevelopmental syndrome
10.3760/cma.j.cn113903-20230110-00014
- VernacularTitle:1例 OTUD5基因无义变异导致X连锁多发性先天畸形- 神经发育综合征胎儿的遗传学分析
- Author:
Hairui SUN
1
;
Xiaoyan HAO
;
Hongjia ZHANG
;
Yihua HE
Author Information
1. 北京航空航天大学生物与医学工程学院，北京 100191
- Keywords:
Heart defects, congenital;
Neurodevelopmental disorders;
Ultrasonography, prenatal;
Endopeptidases;
Genetic variation
- From:
Chinese Journal of Perinatal Medicine
2023;26(3):243-245
- CountryChina
- Language:Chinese
-
Abstract:
We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.
