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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Tubulin
/
Brain
/
Malformations of Cortical Development
/
Fetus
/
Exome Sequencing
Type of study:
Diagnostic study
/
Practice guideline
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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