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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2691| Título : | Phenylalanine hydroxylase deficiency in Mexico: Genotype-phenotype correlations, BH<inf>4</inf> responsiveness and evidence of a founder effect |
| Creador: | Vela Amieva, Marcela Beatríz |
| Nivel de acceso: | Open access |
| Palabras clave : | Biopterina - análogos & derivados Biopterina - uso tertapéutico Preescolar Análisis Mutacional de ADN Efecto Fundador Estudios de Asociación Genética Haplotipos Humanos México Mutación Fenilalanina Hidroxilasa - genética Fenilcetonurias - quimioterapia Fenilcetonurias - genética Resultado del Tratamiento Biopterin - analogs & derivatives Biopterin - therapeutic use Child, Preschool DNA Mutational Analysis Founder Effect Genetic Association Studies Haplotypes Humans Mexico Mutation Phenylalanine Hydroxylase - genetics Phenylketonurias - drug therapy Phenylketonurias - genetics Treatment Outcome PKU Hiperfenilalaninemia Fenilcetonuria Tetrahidrobiopterina PKU hyperphenylalaninemia phenylketonuria tetrahydrobiopterin |
| Descripción : | The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions of responsiveness to tetrahydrobiopterin (BH<inf>4</inf>) have never been performed. We sequenced the PAH gene and determined the geographic origin of each allele, mini-haplotype associated, genotype-phenotype correlations and genotype-based prediction of BH<inf>4</inf> responsiveness in 48 Mexican patients. The mutational spectrum included 34 variants with c.60+5G>T being the most frequent (20.8%) and linked to haplotype 4.3 possibly because of a founder effect and/or genetic drift. Two new variants were found c.1A>T and c.969+6T>C. The genotype-phenotype correlation was concordant in 70.8%. The genotype-based prediction to BH<inf>4</inf>-responsiveness was 41.7%, this information could be useful for the rational selection of candidates for BH<inf>4</inf> testing and therapy. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| Colaborador(es) u otros Autores: | Abreu-González M González-Del Angel A Ibarra-González I Fernández-Lainez C Barrientos-Ríos R Monroy-Santoyo S Guillén-López S Alcántara-Ortigoza Ma. |
| Fecha de publicación : | 2015 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1111/cge.12444 |
| Fuente: | Clinical Genetics 88(1):62 - 67 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2691 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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