Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa

CONCLUSIONS: In this study, it was identified that ATP6V0A2 gene c. 117 + 5G > T may be the cause of the disease. The non-canonical splicing variants of ATP6V0A2 gene were rarely reported in the past, and this variant expanded the variants spectrum of the gene. The functional study of minigene assay plays a certain role in improving the level of evidence for the pathogenicity of splicing variants, which lays a foundation for prenatal counseling and follow-up gene therapy.PMID:38598037 | DOI:10.1007/s11033-024-09446-0
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Source Type: research