Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1373-1376, 2023.
Article
in Chinese
| WPRIM
| ID: wpr-1009306
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Syndrome
/
Abnormalities, Multiple
/
Ultrasonography, Prenatal
/
Vesicular Transport Proteins
/
Fetus
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2023
Type:
Article
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