Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 301-304, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-928406
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Tubulina (Proteína)
/
Encéfalo
/
Malformações do Desenvolvimento Cortical
/
Feto
/
Sequenciamento do Exoma
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
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