Summary
We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean countries, such as Italy. This is the first report of a mutation analysis in the Spanish PKU population.
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, Matei JF, Rey J, Rey F, Munnich A (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936–939
Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Güttler F, Naughton E, Mullins C, Giovannini M, Riva E, Woo SLC (1991) Molecular characterization of a PKU allele prevalent in Southern Europe and Ireland. Somat Cell Mol Genet 17:303–309
Dianzani I, Devoto M, Camaschella C, Saglio G, Battista Ferrero G, Cerone R, Romano C, Romeo G, Giovannini M, Riva E, Angeneydt F, Trefz FK, Okano Y, Woo SLC (1990) Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy. Hum Genet 86:69–72
DiLella AG, Marvit J, Lidsky AS, Güttler F, Woo SLC (1986) Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803
DiLella AG, Marvit J, Brayton K, Woo SLC (1987) An amino-acid substitution involved in phenylketonuria is in linkage dis-equilibrium with DNA haplotype 2. Nature 327:333–336
DiLella AG, Huang WM, Woo SLC (1988) Screening for phenylketonuria mutations by DNA amplification with DNA polymerase chain reaction. Lancet 1:497–498
Guttler F (1980) Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Pediatr Scand 280 [Suppl]:1–80
Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Stuhrmann M, Horst J (1991) Phenylketonuria mutation in Southern Europeans. Lancet I 337:865
Lyonnet S, Caillaud C, Rey F, Berthelon M, Frezal J, Rey J, Munnich A (1989) Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet 44:511–517
Meile D, Vereist P, Rey F, Berthelon M, Francois B, Munnich A, Lyonnet S (1992) Two distinct mutations at a single BamHI site in phenylketonuria. J Med Genet (in press)
Okano Y, Wang T, Eisensmith RC, Longhi R, Riva E, Giovannini M, Cerone R, Romano C, Woo SLC (1991) Phenylketonuria missense mutations in the Mediterranean. Genomics 9:96:103
Pérez B, Desviat LR, García MJ, Ugarte M (1991) Phenotypes and genotypes in the Spanish PKU population. Abstracts of the 29th SSIEM Annual Symposium, London 1991
Reichardt J, Woo SLC (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate urydiltransferase. Proc Natl Acad Sci USA 88:2633–2637
Svensson E, Andersson B, Hagenfeldt L (1990) Two mutations within the coding sequence of the phenylalanine hydroxylase gene. Hum Genet 85:300–304
Ugarte M (1982) Neonatal screening programme for aminoacid disorders and congenital hypothyroidism in Spain. In: Naruse H, Irie M (eds) Neonatal screening. International Symposium on Neonatal Screening for Inborn Errors of Metabolism. Excerpta Medica, Amsterdam, pp 491–492
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pérez, B., Desviat, L.R., Die, M. et al. Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations. Hum Genet 89, 341–342 (1992). https://doi.org/10.1007/BF00220555
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00220555