Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population

Pediatrics

Volumn 97, Issue 4, 1996, Pages 512-516

  Eisensmith, Randy C ^a   Martinez, David R ^a   Kuzmin, Alexei I ^a   Goltsov, Alexei A ^a   Brown, Ann ^b   Singh, Rani ^b   Elsas II, Louis J ^b   Woo, Savio L C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

genotype phenotype correlation; hyperphenylalaninemia; mutation; phenylalanine hydroxylase; phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; INCIDENCE; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; PHENYLKETONURIA; PRIORITY JOURNAL; UNITED STATES;

ALLELES; BASE SEQUENCE; ETHNIC GROUPS; EUROPE; FORECASTING; GENE EXPRESSION REGULATION; GENETICS, POPULATION; GENOTYPE; GEORGIA; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MOLECULAR BIOLOGY; MUTATION; NEONATAL SCREENING; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0029870179     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Eisensmith RC, Woo SLC. Molecular basis of phenylketonuria and related hyperphenylalaninemias mutations and polymorphisms in the human phenylalanine hydroxylase gene Hum Mutat. 1992;1 13-23
2. Scriver CR, John SWM, Rozen R, Eisensimth R, Woo SLC Associations between populations, PKU mutations and RFLP haplotypes at the PAH locus an overview. Dev Bram Dysfunct 1993,6:11-25
3. Scriver CR, ed PAH Gene Mutation Analysis Consortium Montreal: McGill University, 1994
4. Scriver CR, Kaurman S, Eisensmith RC, Woo SLC. The hyperphenylalaninemias In: Seriver CR, Beaudet AL, Sly WS, Valle D, eds The Metabolic and Molecular Bases of Inhherited Disease. 7th ed New York McGraw-Hill Inc, 1995,1 1015-1075
5. Eisensmith RC, Woo SLC Molecular genetics of phenylketonuria from molecular anthropology to gene therapy In Friedman T, ed Advances in Genetics. San Diego. Academic Press, Ine; 1995;32 199-271
6. Goltisov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC. Linkage disequilibrium between mutations and a VNTR in the human phenylalamne hydroxylase gene Am J Hum Genet. 1992;51 627-636
7. Elsas LJ, Acosta PB Nutrition support of inherited metabolic disease In Shils ME, Olson JA, Shike M, eds Modern Nutrition in Health and Disease. 8th ed Philadelphia; Lea & Febiger; 1993;2 1147-1206
8. Güttler F Hyperphenylalaninemia. diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Suppl 1980,280:1-80
9. Okano Y, Eisensmith RC, Guttler F, et al. Molecular basis of phenutypic heterogeneity in phenylketonuria. N Engl J Med 1991;324:1232-1238
10. Svensson E, von Döbeln U, Eisensmith RC, Hagenfeldt L, Woo SLC. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr. 1993;152.132-139
11. Trefz FK, Burgard P, König T, et al Genotype-phenotype correlations in phenylketonuria Clin Chim Acta. 1993;217:15-21
12. Kang ES, Kaufman S, Gerald PS Clinical and biochemical observations of patients with atypical phenylketonuria. Pediatrics. 1970;45 83-92
13. Bartholomè K, Lutz P, Bickel H. Determination of phenylalanine hydroxylase activity in patients with phenylketonuna and hyperphenylalaninemia. Pediatr Res 1975;9:899-903
14. Kaufman S, Max EE, Kang ES. Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: deviation from proportionality with gene dosage. Pediatr Res. 1975;9:632-634
15. Trefz FK, Erlenmaier T, Hunneman DH, Bartholomè K, Lutz P. Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/ mass fragmentography. Clin Chim Acta 1979;99:211-230
16. Trefz FK, Bartholomè K, Bickel H, Lutz P, Schmidt H, Seyberth HW In vitro residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants. J Inherit Metab Dis. 1981;4:101-102
17. Avigad S, Kleiman S, Weinstein M, et al. Compound heterozygosity in nonphenylketonuria hyperphenylalaninemia: the contribution of mutations for classical phenylketonuria. Am J Hum Genet. 1991;49:393-399
18. Economou-Petersen E, Henriksen KF, Guldberg P, Güttler F. Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics. 1992; 14:1-5
19. Guldberg P, Henriksen KF, Thony B, Blau N, Guttler F. Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 1994,21:453-455
20. Kuzmin A, Eisensmith RC, Sergeeva NA, Goltsou AA, Schwartz E, Woo SLC. Complete spectrum of PAH mutations on Tataria. Eur J Hum Genet. 1995;3:246-255
21. Griffin RF, Elsas LJ. Classic phenylketonuria diagnosis through heterozygote detection J Pediatr. 1975;88 512-517
22. Treacy E, Byck S, Clow C, Scriver CR "Celtic" phenylketonuria chromosomes found? Evidence in two regions of Quebec province. Eur J Hum Genet. 1993;22:220-228
23. Eisensmith RC, Goltsov AA, O'Neill C, et al. Recurrence of the R408W mutation in the PAH Locus in Europeans. Am J Hum Genet. 1995;56 278-286
24. US Census Bureau. US Census Bureau publication CP-S-1-2. Detailed Ancestry Groups for States. Washington, DC: U.S. Census Bureau; 1990
25. Desviat LR, Pérez B, Ugarte M. Analysis by illegitimate transcription of a mutation in the 5′ splice site in exon 8 of the PAH gene. Am J Hum Genet. 1994;55:2098
26. Okano Y, Hase Y, Oura T, Isshiki G. Molecular defects in phenylalanine hydroxylase (PAH) gene detected by PAH mRNA analysis from lymphoblasts in Orientals. Am J Hum Genet. 1993;53:935
27. Lyonnet S, Melle D, de Braekeleer M, et al. Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. Am J Hum Genet 1992,51.191-196
28. Pérez B, Desviat LR, Die M, et al Presence of the Mediterranean PKU mutation IVS10 in Latin America. Hum Mol Genet. 1993;2:1289-1290
29. Eisensmith RC, Okano Y, Dasovich M, et al. Multiple origins for phenylketonuria in Europe. Am J Hum Genet. 1992;51:355-1365
30. Rozen R, Mascisch A, Lambert M, Laframboise R, Scriver CR. Mutation profiles of phenylketonuria (PKU) in Quebec populations: evidence for stratification and novel mutations. Am J Hum Genet. 1994;5:321-326
31. Guttler F, Guldberg P, Henriksen KF. Mutation genotype of mentally retarded patients with phenylketonuria. Dev Brain Dysfunct 1993,6:92-96
32. Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RGH. Comparison of genotype and intellectual phenotype in untreated PKU patients. J Med Genet 1993;30.401-405
33. Vereist P, François B, Cassiman JJ, Raus J. Heterogeneity of phenylketonuria in Belgium Dev Brain Dysfunct 1993;6:97-108
34. Ledley FD, Levy HL, Woo SLC. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders N Engl J Med 1986;314:1276-1280
35. DiSilvestre D, Koch R, Groffen J Different clinical manifestations in three siblings with identical phenylalanine hydroxylase genes Am J Hum Genet. 1991;48:1014-1016