Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Experimental & Molecular Medicine
Francesco CaliValentinox Romano

Abstract

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation-dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions i...Continue Reading

References

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Jun 14, 2005·Familial Cancer·Seyed Mohammad AkramiJohn A L Armour
Sep 17, 2005·Molecular Genetics and Metabolism·Amaya Bélanger-QuintanaMercedes Martínez-Pardo
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Jan 16, 2007·Human Mutation·Lisbeth Birk MøllerJohannes Zschocke

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Citations

May 11, 2013·Genetics and Molecular Research : GMR·F CalìV Romano
May 21, 2014·Journal of Genetics·Francesco CalìSebastiano Musumeci
Apr 20, 2012·Molecular Genetics and Metabolism·Urh GroseljTadej Battelino
Nov 14, 2016·European Journal of Medical Genetics·Francesco CalìValentino Romano
Jun 3, 2014·Expert Review of Molecular Diagnostics·Nenad BlauCarla Carducci
May 14, 2016·Iranian Red Crescent Medical Journal·Ziba SoltaniMohammad Miryounesi
May 12, 2018·Molecular Genetics & Genomic Medicine·Eduardo Vieira NetoMárcia G Ribeiro

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