Prenatal diagnosis for a fetus with Walker-Warburg syndrome.
10.3760/cma.j.cn511374-20220425-00279
- VernacularTitle:Walker-Warburg综合征胎儿1例的产前诊断
- Author:
Panpan MA
1
;
Xue CHEN
;
Ling HUI
;
Qinghua ZHANG
;
Chuan ZHANG
;
Shengju HAO
;
Lan YANG
;
Xing WANG
;
Furong XU
;
Bingbo ZHOU
Author Information
1. Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child Health Care Hospital, Lanzhou, Gansu 730050, China. 15293110286@163.com.
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Child;
Female;
Humans;
Walker-Warburg Syndrome;
Prenatal Diagnosis;
Fetus;
Genetic Counseling;
Genomics;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(5):572-576
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS).
METHODS:A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing.
RESULTS:The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4).
CONCLUSION:Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.
