New splicing mutations in propionic acidemia

  title={New splicing mutations in propionic acidemia},
  author={Lourdes R Desviat and Sonia Clavero and Celia P{\'e}rez-Cerd{\'a} and Rosa Navarrete and Magdalena Ugarte and Bel{\'e}n P{\'e}rez},
  journal={Journal of Human Genetics},
AbstractPropionic acidemia results from mutations in either of the two genes, PCCA or PCCB, that encode the two subunits of the propionyl-CoA carboxylase (PCC) enzyme. In this study, we report the identification and analysis of seven novel splicing mutations involving consensus donor and acceptor splice sites. Most of them were identified in patients with a Central Asian origin, and some present in several alleles, probably reflecting founder effects. The functional consequences of the splicing… CONTINUE READING