A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene

1 January 1992

journal article
case report
Published by Hindawi Limited in Human Mutation

Vol. 1 (5) , 388-391
https://doi.org/10.1002/humu.1380010507

Abstract

We here describe the detection of a de novo mutation in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (PKU) patient. This novel mutation, M1I, disrupts the start codon of the gene by a G to A transition. The compound heterozygote genotype (IVS‐12/M1I) of this patient predicts that no phenylalanine hydroxylase enzyme is formed, thus leading to a severe classical PKU. Determination of haplotypes and DNA fingerprint patterns indicates a paternal origin of the de novo mutation.

Keywords

This publication has 4 references indexed in Scilit:

PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics
Human Genetics, 1992
Increased band sharing in DNA fingerprints of an inbred human population
Human Genetics, 1991
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
Nucleic Acids Research, 1991
GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria
Nucleic Acids Research, 1987