Analysis of a fetus with multiple malformations due to a hemizygous variant of FANCB gene.
10.3760/cma.j.cn511374-20221018-00696
- Author:
Lu GAO
1
;
Dongyi YU
;
Na LIU
;
Zhen XU
Author Information
1. Center for Medical Genetics and Prenatal Diagnosis, Key Laboratory of Birth Defect Prevention and Genetic Medicine of Shandong Provincial Health Commission, Key Laboratory of Birth Regulation and Control Technology of the National Health Commission, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong 250014, China. dongyi_yu@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Pregnancy;
Abnormalities, Multiple;
Cleft Lip;
Fanconi Anemia Complementation Group Proteins;
Fetus;
Gestational Age;
Mothers
- From:
Chinese Journal of Medical Genetics
2023;40(10):1257-1262
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with limb abnormality and cardiac malformation.
METHODS:Clinical data of a fetus diagnosed at the Shandong Provincial Maternal and Child Health Care Hospital on April 30th, 2021 was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. X-inactivation analysis was carried out for the female members of its family.
RESULTS:The fetus was found to have meningoencephalocele, absence of bilateral radii, cleft lip, abnormal great arteries, and single umbilical artery at the gestational age of 11+ weeks. Sequencing revealed that the fetus has harbored a hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene, which was maternally inherited. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4). X-inactivation analysis has revealed complete skewed X-inactivation in the pregnant woman and her mother.
CONCLUSION:The hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene probably underlay the multiple malformations in this fetus.
