Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene

CONCLUSION: We described the possible role of mtDNA genetics on the pathogenesis of congenital scoliosis by hypothesizing that the presence of the homozygous variant in TBXT accounts for the CS phenotype in our patient and the MT-ND3 gene may act as a modifier gene.PMID:38499212 | DOI:10.1016/j.gene.2024.148388

Source: Gene - March 18, 2024 Category: Genetics & Stem Cells Authors: Olfa Alila-Fersi Amel Tej Marwa Maalej Marwa Kharrat Lamia Boughamoura Jihen Chouchen Abdelaziz Tlili Faiza Fakhfakh Source Type: research