Phenylketonuria mutations in Europe

Human Mutation

Volumn 21, Issue 4, 2003, Pages 345-356

  Zschocke, Johannes ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Europe; MHP; Mild hyperphenylalaninemia; PAH; Phenylalanine hydroxylase; Phenylketonuria; PKU; Population genetics

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SEQUENCE; CLINICAL FEATURE; EUROPE; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; GENETIC DRIFT; HAPLOTYPE; HETEROSIS; HUMAN; HYPERPHENYLALANINEMIA; MIGRATION; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; REVIEW;

EUROPE; GENETICS, POPULATION; HUMANS; MUTATION; PHENYLKETONURIAS;

EID: 0037237526     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10192     Document Type: Review

References (76)

1. Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A. 1989. CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936-939.
2. Abadie V, Lyonnet S, Melle D, Berthelon M, Caillaud C, Labrune P, Rey F, Rey J, Munnich A. 1993. Molecular basis of phenylketonuria in France. Dev Brain Dysfunct 6: 120-126.
3. Apold J, Eiken HG, Svensson E, Kunert E, Kozak L, Cechak P, Guttler F, Giltay J, Lichter-Konecki U, Melle D, Jaruzelska JM. 1993. The phenylketonuria G272X haplotype 7 mutation in European populations. Hum Genet 92:107-109.
4. Aulehla-Scholz C, Heilbronner H. 2003. Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum Mutat 21:399-400.
5. Baranovskaya S, Shevtsov S, Maksimova S, Kuzmin A, Schwartz E. 1996. The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg. J Inherit Metab Dis 19:705.
6. Baric I, Mardesic D, Gjuric G, Sarnavka V, Gobel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK. 1992. Haplotype distribution and mutations at the PAH locus in Croatia. Hum Genet 90:155-157.
7. Baric I, Mardesic D, Sarnavoka V, Lichter-Konecki U, Konecki DS, Trefz FK. 1994. Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe. J Inherit Metab Dis 17: 376-377.
8. Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR. 1994. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum Mol Genet 3: 1675-1677.
9. Byck S, Tyfield L, Carter K, Scriver CR. 1997. Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations. Hum Mutat 9:316-321.
10. Cali F, Dianzani I, Desviat LR, Perez B, Ugarte M, Ozguc M, Seyrantepe V, Shiloh Y, Giannattasio S, Carducci C, Bosco P, De Leo G, Piazza A, Romano V. 1997. The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples. Hum Genet 100: 350-355.
11. Cavalli-Sforza LL, Piazza A. 1993. Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur J Hum Genet 1:3-18.
12. Charikova EV, Khalchitskii SE, Antoshechkin AG, Schwartz El. 1993. Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region. Hum Hered 43:244-249.
13. Desviat LR, Perez B, Ugarte M. 1997. Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34. Hum Mutat 9:66-68.
14. Desviat LR, Perez B, Gamez A, Sanchez A, Garcia MJ, Martinez-Pardo M, Marchante C, Boveda D, Baldellou A, Arena J, Sanjurjo P, Fernandez A, Cabello ML, Ugarte M. 1999. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet 7:386-392.
15. Dianzani I, Giannattasio S, de Sanctis L, Marra E, Ponzone A, Camaschella C, Piazza A. 1994. Genetic history of phenylketonuria mutations in Italy. Am J Hum Genet 55: 851-853.
16. Eiken HG, Stangeland K, Skjelkvale L, Knappskog PM, Boman H, Apold J. 1992. PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics. Hum Genet 88:608-612.
17. Eiken HG, Knappskog PM, Boman H, Thune KS, Kaada G, Motzfeldt K, Apold J. 1996. Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. Eur J Hum Genet 4:205-213.
18. Eisensmith RC, Okano Y, Dasovich M, Wang T, Guttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, Hagenfeldt L, Rey F, Munnich A, Lyonnet S, Cockburn F, Connor LM, Pembrey ME, Smith I, Gitzelmann R, Steinmann B, Apold J, Eiken HG, Giovannini M, Riva E, Longhi R, Romano C, Cerone R, Naughten ER, Mullins C, Cahalane S, Özalp I, Fekete G, Schuler D, Berencsi GY, Nasz I, Brdicka R, Kamaryt J, Pijackova A, Cabalska B, Boszkowa K, Schwartz E, Kalinin VN, Jin L, Chakraborty R, Woo SLC. 1992. Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:1355-1365.
19. Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR, Güttler F, Guldberg P, Eiken HG, Apold J, Svensson E, Naughten E, Cahalane SF, Croke DT, Cockburn F, Woo SLC. 1995. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 56:278-286.
20. Flatz G, Oelbe M, Herrmann H. 1984. Ethnic distribution of phenylketonuria in the north German population. Hum Genet 65:396-399.
21. Giannattasio S, Dianzani I, Lattanzio P, Spada M, Romano V, Cali F, Andria G, Ponzone A, Marra E, Piazza A. 2001. Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes. Hum Hered 52:154-159.
22. Guldberg P, Henriksen KF, Guttler F. 1993a. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 17:141-146.
23. Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E, Biasucci G, Henriksen KF, Güttler F. 1993b. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. Hum Mol Genet 2:1703-1707.
24. Guldberg P, Guttler E 1994. "Broad-range" DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res 22: 880-881.
25. Guldberg P, Henriksen KF, Thony B, Blau N, Guttler F. 1994. Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 21:453-455.
26. Guldberg P, Henriksen KF, Sipila I, Guttler F, de la Chapelle A. 1995. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. J Med Genet 32:976-978.
27. Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, Rouse BM, Trefz F, de la Cruz F, Henriksen KF, Guttler F. 1996a. Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. Am J Hum Genet 59:84-94.
28. Guldberg P, Mallmann R, Henriksen KF, Guttler F. 1996b. Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. Hum Mutat 8:276-279.
29. Guldberg P, Zschocke J, Dagbjartsson A, Henriksen KF, Guttler F. 1997. A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement. Eur J Hum Genet 5: 376-381.
30. Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Guttler F. 1998. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63:71-79.
31. Helgason A, Siguriardóttir S, Gulcher JR, Ward R, Stefansson K. 2000. mtDNA and the origin of the Icelanders: deciphering signals of recent population history. Am J Hum Genet 66:999-1016.
32. Hennermann JB, Vetter B, Wolf C, Windt E, Buhrdel P, Seidel J, Monch E, Kulozik AE. 2000. Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. Hum Mutat 15:254-260.
33. Jaruzelska J, Matuszak R, Lyonnet S, Rey F, Rey J, Filipowicz J, Borski K, Munnich A. 1993. Genetic background of clinical homogeneity of phenylketonuria in Poland. J Med Genet 30:232-234.
34. Kadasi L, Polakova H, Ferakova E, Hudecova S, Bohusova T, Szomolayova I, Strnova J, Hruskovic I, Moschonas NK, Ferak V. 1995. PKU in Slovakia: mutation screening and haplotype analysis. Hum Genet 95:112-114.
35. Kalanin J, Takarada Y, Kagawa S, Yamashita K, Ohtsuka N, Matsuoka A. 1994. Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia. Am J Med Genet 49:235-239.
36. Kalaydjieva L, Dworniczak B, Kremensky I, Radeva B, Horst J. 1993. Population genetics of phenylketonuria in Bulgaria. Dev Brain Dysfunct 6:39-54.
37. Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kucinskas V. 2003. The molecular basis of phenylketonuria in Lithuania. Hum Mutat 21:398.
38. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. 1997. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet 61: 1309-1317.
39. Kidd JR, Pakstis AJ, Zhao H, Lu RB, Okonofua FE, Odunsi A, Grigorenko E, Tamir BB, Friedlaender J, Schulz LO, Parnas J, Kidd KK. 2000. Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet 66:1882-1899.
40. Kozak L, Blazkova M, Kuhrova V, Pijackova A, Ruzickova S, St'astna S. 1997. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. J Med Genet 34:893-898.
41. Krawczak M, Zschocke J. 2003. A role for overdominant selection in phenylketonuria? Evidence from molecular data. Hum Mutat 21:394-397.
42. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K. 1999. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135:375-378.
43. Leandro P, Rivera I, Ribeiro V, de Almeida IT, da Silveira C, Lechner MC. 1995. Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation. Hum Mutat 6:192-194.
44. Lillevali H, Ounap K, Metspalu A. 1996. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. Eur J Hum Genet 4:296-300.
45. Lin CH, Hsiao KJ, Tsai TF, Chao HK, Su TS. 1992. Identification of a missense phenylketonuria mutation at codon 408 in Chinese. Hum Genet 89:593-596.
46. Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Mila M. 1999. Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. Hum Genet 105:468-473.
47. Meijer H, Jongbloed RJ, Hekking M, Spaapen LJ, Geraedts JP. 1993. RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families. Hum Genet 92:588-592.
48. Mirisola MG, Cali F, Gloria A, Schinocca P, D'Amato M, Cassara G, Leo GD, Palillo L, Meli C, Romano V. 2001. PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis. Mol Genet Metab 74:353-361.
49. Nechyporenko MV, Livshits LA. 2002. Molecular and genetical study of phenylketonuria in Ukraine (abstract). Eur J Hum Genet 10(Suppl 1):236.
50. O'Donnell K, O'Neill C, Tighe O, Bertorelle G, Naughten E, Mayne P, Croke D. 2002. The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited. Eur J Hum Genet 10:530-538.
51. Ozguc M, Ozalp I, Coskun T, Yilmaz E, Erdem H, Ayter S. 1993. Mutation analysis in Turkish phenylketonuria patients. J Med Genet 30:129-130.
52. Perez B, Desviat LR, Ugarte M. 1997. Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers. Am J Hum Genet 60:95-102.
53. Popescu T, Blazkova M, Kozak L, Jebeleanu G, Popescu A. 1998. Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. Hum Mutat 12:314-319.
54. Pronina N, Giannattasio S, Lattanzio P, Lugovska R. 2003. The molecular basis of phenylketonuria in Latvia. Hum Mutat 21:398-399.
55. Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC. 1998. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. J Med Genet 35:301-304.
56. Scriver CR, Waters PJ. 1999. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet 15:267-272.
57. Scriver CR, Kaufman S. 2001. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. Vol. II. New York: McGraw-Hill. p 1667-1724.
58. Scriver CR. 2002. Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J Pediatr 140:502-506.
59. Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Sarkissian C, McDonald D, Ryan S. 2003. PAHdb: updates on a locus-specific knowledgebase. Hum Mutat 21:333-344.
60. Sueoka H, Nagao M, Chiba S. 2000. Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China. Genet Test 4: 249-256.
61. Svensson E, von Dobeln U, Eisensmith RC, Hagenfeldt L, Woo SL. 1993. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr 152:132-139.
62. Traeger-Synodinos J, Kanavakis E, Kalogerakou M, Soulpi K, Missiou-Tsangaraki S, Kattamis C. 1994. Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients. Hum Genet 94: 573-575.
63. Tyfield LA. 1995. Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals? Mol Pathol 50:169-174.
64. Tyfield LA, Stephenson A, Cockburn F, Harvie A, Bidwell JL, Wood NA, Pilz DT, Harper P, Smith I. 1997. Sequence variation at the phenylalanine hydroxylase gene in the British Isles. Am J Hum Genet 60:388-396.
65. van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. 1996. Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis. Hum Hered 46: 185-190.
66. Verelst P, François B, Cassiman JJ, Raus J. 1993. Heterogeneity of Phenylketonuria in Belgium. Developmental Brain Dysfunction 6:97-108.
67. Weglage J, Pietsch M, Feldmann R, Koch HG, Zschocke J, Hoffmann G, Muntau-Heger A, Denecke J, Guldberg P, Guttler F, Moller H, Wendel U, Ullrich K, Harms E. 2001. Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr Res 49: 532-536.
68. Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T 1994. Frequencies of the most common mutations responsible for phenylketonuria in Poland. Mol Cell Probes 8:323-324.
69. Zekanowski C, Nowacka M, Cabalska B, Bal J. 1997. Molecular basis of mild hyperphenylalaninaemia in Poland. J Med Genet 34:1035-1036.
70. Zekanowski C, Jurkowska M, Bal J. 2001. Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients. Hum Hered 51: 117-120.
71. Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC. 1994. Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis. Hum Mutat 4:114-118.
72. Zschocke J, Graham CA, Carson DJ, Nevin NC. 1995. Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am J Hum Genet 57: 1311-1317.
73. Zschocke J, Mallory JP, Eiken HG, Nevin NC. 1997. Phenylketonuria and the peoples of Northern Ireland. Hum Genet 100:189-194.
74. Zschocke J, Hoffmann GF. 1999. Phenylketonuria mutations in Germany. Hum Genet 104:390-398.
75. Zschocke J, Knauer A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I. 2003. The molecular basis of phenylalanine hydroxylase deficiency in Croatia. Hum Mutat 21:399.
76. Zygulska M, Eigel A, Pietrzyk JJ, Horst J. 1994. Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus. Hum Mutat 4:297-299.