3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening

• Tipo: Artigo em Revista Científica Internacional
• Data: 2016

Autores

Fonseca, H (Autor) Outra; Luisa Azevedo (Autor) FCUP; Serrano, C (Autor) Outra; Sousa, C (Autor) Outra; Marcao, A (Autor) Outra; Vilarinho, L (Autor) Outra

Revista

Título: Gene

Vol. 594

Páginas: 203-210

ISSN: 0378-1119

Editora: Elsevier

Indexação

ISI Web of Knowledge - 0 Citações

Scopus - 0 Citações

Outras Informações

ID Authenticus: P-00M-4F5

DOI: 10.1016/j.gene.2016.09.003

Abstract (EN): The deficiency of 3-methycrotonyl-CoA carboxylase (3-MCC; EC 6.4.1.4) is an autosomal recessive organic aciduria that is included in the newborn screening programs of several countries. This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance. These mutations are discussed in the context of their likely impact on the function of the 3-MCC enzyme, with a view to exploring whether a phenotype-genotype correlation might be discerned. Further, these mutations were analysed in the context of what is known of the MCCCI and MCCC2 mutational spectra, information that will be useful in both clinical and laboratory practice.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 8