Prenatal ultrasound manifestations of TUBB3 gene-related microtubule protein disease：a case report
10.3760/cma.j.cn131148-20241212-00644
- VernacularTitle:TUBB3基因相关微管蛋白病产前超声表现1例
- Author:
Yuan ZHAO
1
;
Yan XIA
1
;
Xiaodong LIU
1
;
Yang WU
1
;
Yarui WEI
1
;
Wei ZHAO
1
;
Xueqin JI
1
Author Information
1. 北京大学第一医院宁夏妇女儿童医院（宁夏回族自治区妇幼保健院）超声医学科，银川 750004
- Publication Type:Journal Article
- Keywords:
Ultrasonography，prenatal;
Tubulinopathy;
TUBB3
- From:
Chinese Journal of Ultrasonography
2025;34(5):439-442
- CountryChina
- Language:Chinese
-
Abstract:
Microtubulin disease，which is rare in prenatal settings，is characterized by severe brain developmental abnormalities due to mutations in the microtuberin gene.In this article，a patient diagnosed with TUBB3-related microtubule proteinopathy during prenatal testing was reported，serving as a reference for prenatal physicians. A 33-year-old pregnant woman，who was 23 +5 weeks pregnant，visited to Peking University First Hospital Ningxia Women and Children's Hospital. During a prenatal ultrasound examination，it was discovered that the fetal brain midline was curved，the septum pellucida was twisted，the left lateral fissure had an oblique platform shape，the left lateral ventricle was enlarged，and there were left thoracic cystadenoma and right ventricular hyperechoic plaques. Whole exome sequencing was performed and revealed a mutation in the TUBB3 gene. The pregnancy was terminated at 26 +6 weeks of gestation. Prenatal ultrasound can detect some signs of microtubule protein disease，and genetic testing is recommended for prenatal diagnosis to comprehensively assess the prognosis of the fetus.
