Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7.
10.3760/cma.j.cn511374-20210331-00285
- Author:
Lulu YAN
1
;
Zhaier LU
;
Yingwen LIU
;
Chunxiao HAN
;
Hongjun YING
;
Youwei BAO
;
Jiangyang XUE
;
Haibo LI
Author Information
1. The Central Laboratory for Birth Defect Prevention and Control, Ningbo Women and Children's Hospital Zhejiang 315012, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Brain;
Female;
Fetus/abnormalities*;
Humans;
Malformations of Cortical Development/genetics*;
Pregnancy;
Prenatal Diagnosis;
Tubulin/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(3):301-304
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations.
METHODS:Whole exome sequencing was carried out for the fetus and its parents. Suspected pathogenic variants were verified by Sanger sequencing.
RESULTS:A novel de novo missense variant c.758T>A (p.L253Q) of the TUBB2B gene was identified, which was unreported previously. Based on the guidelines from the American College of Medical Genetics, the c.758T>A variant was predicted to be likely pathogenic. Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant may impact the formation of hydrogen bonds between Leu253 and Asp249 and Met257 residues, which in turn may affect the combination of GTP/GDP and function of the TUBB2B protein.
CONCLUSION:The c.758T>A variant of the TUBB2B gene probably underlay the fetal malformations in this Chinese family. Above discovery has enriched the spectrum of TUBB2B gene variants and provided a basis for genetic counseling and prenatal diagnosis.
