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 characteristicsHuman Genetics, 1992
- Increased band sharing in DNA fingerprints of an inbred human populationHuman Genetics, 1991
- Application of natural and amplification created restriction sites for the diagnosis of PKU mutationsNucleic Acids Research, 1991
- GT to AT transition at a splice donor site causes skipping of the preceding exon in PhenylketonuriaNucleic Acids Research, 1987