Prenatal diagnosis of microcephaly due to CTNNB1 frameshift variation: a case report
10.3760/cma.j.cn113903-20231121-00332
- VernacularTitle:产前诊断 CTNNB1基因移码变异致小头畸形1例
- Author:
Haiyu LI
1
;
Weifang TIAN
;
Yanhua DONG
;
Yangyang WANG
;
Handuo WANG
;
Jia PENG
;
Bo YANG
;
Xueyin CUI
;
Shihong CUI
;
Ling LIU
Author Information
1. 郑州大学第三附属医院医学遗传与产前诊断中心，郑州 450000
- Keywords:
Microcephaly;
Neurodevelopmental disorder;
Whole-exome sequencing;
Genetic variation;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2024;27(5):417-420
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of neurodevelopmental disorder accompanied by spastic diplegia and visual impairment with the manifestation of small fetal head circumference. Prenatal ultrasonography performed at 33 +5 weeks of pregnancy revealed small fetal head circumference (-2.61SD) and oligohydramnios. Whole-exome sequencing identified a heterozygous frameshift variation of c.1623_1624insA (p.R542Tfs*30) in the CTNNB1 gene (NM_001904.4) of the fetus. No phenotypic abnormalities or corresponding gene variations were detected in the parents, suggesting it was a de novo variation. Based on the clinical manifestations, the fetus was diagnosed with a neurodevelopmental disorder accompanied by spastic diplegia and visual defects. Following genetic counseling, the pregnant woman chose to terminate the pregnancy.
