Prenatal diagnosis of intellectual developmental disorder type 22 caused by ZBTB18 gene mutation: a case report
10.3760/cma.j.cn113903-20240725-00528
- VernacularTitle:产前诊断 ZBTB18基因变异导致智力发育障碍22型1例
- Author:
Jia CHE
1
;
Jing GUO
1
;
Pengyun LI
1
;
Yuexia LYU
1
;
Fangying CUI
1
;
Yuan TIAN
1
;
Yali LI
1
;
Shihong CUI
1
;
Ling LIU
1
Author Information
1. 郑州大学第三附属医院产前诊断中心，郑州 450052
- Publication Type:Journal Article
- Keywords:
ZBTB18 gene;
Autosomal dominant intellectual developmental disorder type 22;
Whole exome sequencing;
Genetic variation;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(1):70-73
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of autosomal dominant intellectual developmental disorder type 22 caused by a heterozygous mutation in the ZBTB18 gene. At 24 +4 weeks of gestation, prenatal ultrasound indicated a short outer diameter of the fetal corpus callosum and bilateral ventricular dilatation. Whole-genome copy number variation analysis of the fetus showed no abnormalities. Whole exome sequencing (WES) and Sanger sequencing validation of the family revealed the fetus carried a c.1374_1383del(p.S459*) heterozygous mutation in the ZBTB18 gene (NM_205768.3), which was neither phenotypically present nor genotypically detected in the parents, suggesting a de novo mutation. Based on the clinical manifestations, the fetus was diagnosed with autosomal dominant intellectual developmental disorder type 22. After genetic counseling, the pregnant woman opted for termination of the pregnancy. This case highlights the correlation between prenatal ultrasonic detection of callosal dysgenesis and lateral ventricular enlargement and intellectual developmental disorders caused by gene mutations. Furthermore, it expands the mutation spectrum of the ZBTB18 gene, thereby facilitating prenatal diagnosis and genetic counseling.
