Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: Implications for diagnosis and genetic counselling

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 161-164

  Guldberg, Per ^a   Levy, Harvey L ^b   Henriksen, Karen Friis ^a   Güttler, Flemming ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Hyperphenylalaninaemia; Phenylalanine hydroxylase deficiency; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; DIAGNOSTIC ERROR; DNA DETERMINATION; ENZYME DEFICIENCY; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0030064981     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.161     Document Type: Article

References (26)

1. Kaufman S. Phenylketonuria: biochemical mechanisms. In: Agranoff BW, Aprison MH, eds. Advances in neurochemistry. Vol 2. New York: Plenum Press, 1976:1-132.
2. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995:1015-75.
3. Güttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand 1980;suppl 280:1-80.
4. Güttler F, Guldberg P. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypical heterogeneity of hyperphenylalaninemia. Acta Paediatr Scand 1994;suppl 407:49-56.
5. Kwok SCM, Ledley FD, DiLella AG, Robson KJH, Woo SLC. Nucleotide sequence of a full length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985;24:556-61.
6. PAH Mutation Analysis Consortium. July 1995 Edition. Montreal: McGill University, 1995.
7. Eisensmith RC, Woo SLC. Population genetics of phenylketonuria. Acta Paediatr Scand 1994;suppl 407:19-26.
8. Okano Y, Eisensmith RC, Güttler F, et al. Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 1991;324:1232-8.
9. 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;152:132-9.
10. Guldberg P, Güttler F. Mutations in the phenylalanine hydroxylase gene: methods for their characterization. Acta Paediatr Scand 1994;suppl 407:27-33.
11. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-413.
12. Guldberg P, Güttler F. 'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res 1994;22:880-1.
13. Guldberg P, Romano V, Ceratto N, et al. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in Southern Europe. Hum Mol Genet 1993;2:1703-7.
14. Wong C, Dowling CE, Saiki RK, et al. Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 1987;330:384-6.
15. Guldberg P, Henriksen KF, Güttler F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 1993;17:141-6.
16. Wang T, Okano Y, Eisensmith RC, et al. Founder effect of a prevalent phenylketonuria mutation in the Oriental population. Proc Natl Acad Sci USA 1991;88:2146-50.
17. Okano Y, Eisensmith RC, Dasovich M, et al. A prevalent missense mutation in Northern Europe associated with hyperphenylalaninemia. Eur J Pediatr 1991;150:347-52.
18. Economou-Petersen E, Henriksen KF, Guldberg P, Güttler F. Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics 1992;14:1-5.
19. Cooper DN, Krawczak M. Human gene mutation. Oxford: BIOS Press, 1993.
20. Abadie V, Lyonnet S, Maurin N, et al. CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 1989;5:936-9.
21. Cotton RGH. Current methods of mutation detection. Mutat Res 1993;285:125-44.
22. Grompe M. The rapid detection of unknown mutations in nucleic acids. Nature Genet 1993;5:111-17.
23. Latham T, Grabowski GA, Theophilus BDM, Smith FI. Complex alleles of the β-glucosidase gene in Gaucher disease. Am J Hum Genet 1990;47:79-86.
24. Dörk T, Wulbrand U, Richter T, et al. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum Genet 1991;87:441-6.
25. Savov A, Angelicheva D, Balassopoulou A, et al. Double mutant alleles: are they rare? Hum Mol Genet 1995;4:1169-71.
26. Elsas LJ, Langley S, Steele E, et al. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 1995;56:630-9.