Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, iden...

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Published inMolecular genetics and metabolism reports Vol. 15; pp. 75 - 77
Main Authors Schwoerer, Jessica Scott, Drilias, Nicoletta, Kuhl, Ashley, Mochal, Sean, Baker, Mei
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.06.2018
Elsevier
Subjects
Genotype
Neonatal screening
Phenylketonuria
Short Communication
Genotype
Phenylketonuria
Neonatal screening
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Summary:In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, identified through newborn screen or diagnosed by symptomatic presentation, who are receiving medical care at the University of Wisconsin metabolic clinic. Genotype and phenotypic data were evaluated to characterize genotype-phenotype correlations. Results can inform the need for confirmatory testing for the disorder and provide a better understanding of the biochemical phenotype, which may help with management.
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ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2018.02.005