[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 301-304, 2022 Mar 10.
Article
em Zh
| MEDLINE
| ID: mdl-35315040
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tubulina (Proteína)
/
Malformações do Desenvolvimento Cortical
/
Feto
Tipo de estudo:
Diagnostic_studies
/
Guideline
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Ano de publicação:
2022
Tipo de documento:
Article