Summary
A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase gene, a codon that thus appears to be a mutation hot spot.
This is a preview of subscription content, log in via an institution to check access.
References
Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei J-F, Rey J, Rey F, Munnich A (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936–939
Cooper D, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 76:40–46
DiLella A, Marvit J, Lidsky A, Güttler F, Woo SLC (1986) Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803
DiLella A, Marvit J, Brayton Woo SLC (1987) An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333–336
DiLella A, Huang WM, Woo SLC (1988) Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet I:497–499
Dworniczak B, Aulehla-Scholz C, Horst J (1989) Phenylketonuria: detection of a frequent haplotype 4 allele mutation. Hum Genet 84:95–96
Dworniczak B, Grudda K, Stümper J, Bartholomé K, AulehlaScholz C, Horst J (1991) Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. Genomics 9:193–199
John S, Rozen R, Scriver C, Lambroise R, Laberge C (1990) Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in FrenchCanadians and a catalogue of mutations. Am J Hum Genet 46:970–974
Kwok S, Ledley F, DiLella A, Robson K, Woo SLC (1985) Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24:556–561
Lidsky A, Ledley F, DiLella A, Kwok S, Daiger S, Robson K, Woo SLC (1985) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application to prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619–634
Okano Y, Wang T, Eisensmith R, Steinmann B, Gitzelmann R, Woo SLC (1990) Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am J Hum Genet 46:18–25
Svensson E, Andersson B, Hagenfeldt L (1990) Two mutations within the coding sequence of the phenylalanine hydroxylase gene. Hum Genet 85:300–304
Thompson G, Halliday D (1990) Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. J Clin Invest 86:317–322
Trefz F, Schmidt H, Bartholome K (1985) Differential diagnosis and significance of various hyperphenylalaninemia. In: Bickel H, Wachtel U (eds) Inherited diseases of amino acid metabolism. Thieme, Stuttgart New York, pp 86–100
Tsai TF, Hsiao KJ, Su TS (1990) Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern European Caucasians. Hum Genet 84:409–411
Wang T, Okano Y, Eisensmith R, Fekete G, Schuler D, Berensci G, Nasz I, Woo SLC (1990) Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene. Somatic Cell Mol Genet 16:85–90
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Dworniczak, B., Kalaydjieva, L., Aulehla-Scholz, C. et al. Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene. Hum Genet 87, 731–733 (1991). https://doi.org/10.1007/BF00201735
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00201735