Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type.
10.3760/cma.j.cn511374-20200824-00621
- VernacularTitle:一例罕见Guion-Almeida型下颌骨颜面发育障碍胎儿的遗传学分析
- Author:
Lulu YAN
1
;
Liyun TIAN
;
Juan CAO
;
Bihua ZHOU
;
Yuxin ZHANG
;
Yingwen LIU
;
Chunxiao HAN
;
Haibo LI
Author Information
1. Ningbo Women and Children's Hospital, Central Laboratory of Birth Defects Prevention and Control, Ningbo, Zhejiang 315000, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Fetus;
Humans;
Mandibulofacial Dysostosis/genetics*;
Mutation;
Peptide Elongation Factors/genetics*;
Phenotype;
Pregnancy;
Ribonucleoprotein, U5 Small Nuclear/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(8):791-794
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography.
METHODS:Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.
RESULTS:WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein.
CONCLUSION:The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
