Improving phenylketonuria genotyping by screening for the IVS4+5g&gt;t mutation in the PAH gene

Lucca, Marisel De; Arias, I.; Casique, Liliana; Araujo, Katiuska; Merzon, Rosa Maria

doi:10.1016/j.cca.2008.10.029

Cited by 1 publication

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“…Genomic DNA was isolated by standard procedures. PAH variants were identified using direct automated DNA sequencing of the 13 coding exons and flanking regions as previously described ; c.60+5G>T and c.969+6T>C were analyzed in silico using the Human Splicing Finder software (http://www.umd.be/HSF/).…”

Section: Methodsmentioning

confidence: 99%

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH₄ responsiveness and evidence of a founder effect

et al. 2014

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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 (BH4 ) 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 BH4 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 BH4 -responsiveness was 41.7%, this information could be useful for the rational selection of candidates for BH4 testing and therapy.

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Section: Methodsmentioning

confidence: 99%

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH₄ responsiveness and evidence of a founder effect

et al. 2014

View full text Add to dashboard Cite

show abstract

Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene

Cited by 1 publication

References 14 publications

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH₄ responsiveness and evidence of a founder effect

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH₄ responsiveness and evidence of a founder effect

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Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene

Cited by 1 publication

References 14 publications

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

Contact Info

Product

Resources

About

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH₄ responsiveness and evidence of a founder effect

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH₄ responsiveness and evidence of a founder effect