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  • Title: [Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].
    Author: Yan L, Lu Z, Liu Y, Han C, Ying H, Bao Y, Xue J, Li H.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar 10; 39(3):301-304. PubMed ID: 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.
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