Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome.
10.3760/cma.j.cn511374-20210910-00739
- VernacularTitle:Schuurs-Hoeijmakers综合征产前诊断1例
- Author:
Lisha SU
1
;
Xiaofan ZHU
;
Qinghua WU
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Female;
Pregnancy;
Humans;
Prenatal Diagnosis;
Ultrasonography, Prenatal;
Syndrome;
Fetus;
Abnormalities, Multiple;
Vesicular Transport Proteins
- From:
Chinese Journal of Medical Genetics
2023;40(11):1373-1376
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with multiple malformations.
METHODS:Clinical data of the fetus was collected, Amniotic fluid sample of the fetus was subjected to conventional G-banded karyotyping, low-depth whole genome copy number variants detection and whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing of the fetus and its parents.
RESULTS:Prenatal ultrasound scan at 21+5 gestational weeks had revealed increased nuchal thickness (9.0 mm), enhanced echos of bilateral renal parenchyma, seroperitoneum, left pleural effusion and right displacement of the heart. The mother had a previous history of terminated pregnancy for multiple fetal anomalies. No abnormality was found by conventional karyotyping and CNV analysis, though WES revealed that the fetus has harbored a de novo heterozygous c.607C>T (p.Arg203Trp) variant of the ACS1 gene (NM_018026.3), and the result was validated by Sanger sequencing.
CONCLUSION:Through WES and prenatal ultrasonography, the fetus was diagnosed with Schuurs-Hoeijmakers syndrome due to the heterozygous c.607C>T (p.Arg203Trp) variant of the PACS1 gene (NM_018026.3). For fetuses with multiple malformations, WES can help to reveal the genetic etiology when CNV result is negative.
