The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles

Molecular Genetics and Metabolism

Volumn 104, Issue SUPPL., 2011, Pages

  Kostandyan, Natella ^a   Britschgi, Corinne ^c   Matevosyan, Albert ^a   Oganezova, Alvina ^a   Davtyan, Anahit ^b   Blau, Nenad ^c   Steinmann, Beat ^c   Thöny, Beat ^c  

^a Center of Medical Genetics and Primary Health Care   (Armenia)

^b YEREVAN STATE MEDICAL UNIVERSITY   (Armenia)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

DHPR deficiency; Hyperphenylalaninemia; Mutation analysis

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL TRIAL; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; DISEASE SEVERITY; ENZYME DEFICIENCY; EXON; GENE MUTATION; GENOTYPE; HUMAN; INTRON; PHENYLKETONURIA; PRIORITY JOURNAL; SPLICING DEFECT;

ALLELES; ARMENIA; GENOTYPE; HUMANS; MUTANT PROTEINS; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 82755197786     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.006     Document Type: Article

References (22)

1. Blau N., van Spronsen F.J., Levy H.L. Phenylketonuria. Lancet 2010, 376:1417-1427.
2. Thöny B., Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum. Mutat. 2006, 27:870-878.
3. John S.W., Rozen R., Scriver C.R., Laframboise R., Laberge C. Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am. J. Hum. Genet. 1990, 46:970-974.
4. Lee D.H., Koo S.K., Lee K.S., Yeon Y.J., Oh H.J., Kim S.W., Lee S.J., Kim S.S., Lee J.E., Jo I., Jung S.C. The molecular basis of phenylketonuria in Koreans. J. Hum. Genet. 2004, 49:617-621.
5. Daniele A., Cardillo G., Pennino C., Carbone M.T., Scognamiglio D., Correra A., Pignero A., Castaldo G., Salvatore F. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. Ann. Hum. Genet. 2007, 71:185-193.
6. Hardelid P., Cortina-Borja M., Munro A., Jones H., Cleary M., Champion M.P., Foo Y., Scriver C.R., Dezateux C. The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England. Ann. Hum. Genet. 2008, 72:65-71.
7. Bercovich D., Elimelech A., Yardeni T., Korem S., Zlotogora J., Gal N., Goldstein N., Vilensky B., Segev R., Avraham S., Loewenthal R., Schwartz G., Anikster Y. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. Ann. Hum. Genet. 2008, 72:305-309.
8. Dobrowolski S.F., Borski K., Ellingson C.C., Koch R., Levy H.L., Naylor E.W. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J. Hum. Genet. 2009, 54:335-339.
9. Karacic I., Meili D., Sarnavka V., Heintz C., Thony B., Ramadza D.P., Fumic K., Mardesic D., Baric I., Blau N. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol. Genet. Metab. 2009, 97:165-171.
10. Dobrowolski S.F., Heintz C., Miller T., Ellingson C., Ellingson C., Ozer I., Gokcay G., Baykal T., Thony B., Demirkol M., Blau N. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol. Genet. Metab. 2011, 102:116-121.
11. Bashyam M.D., Chaudhary A.K., Reddy E.C., Devi A.R., Savithri G.R., Ratheesh R., Bashyam L., Mahesh E., Sen D., Puri R., Verma I.C., Nampoothiri S., Vaidyanathan S., Chandrashekar M.D., Kantheti P. Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA. Mol. Genet. Metab. 2010, 100:96-99.
12. Zare-Karizi S., Hosseini-Mazinani S.M., Khazaei-Koohpar Z., Seifati S.M., Shahsavan-Behboodi B., Akbari M.T., Koochmeshgi J. Mutation spectrum of phenylketonuria in Iranian population. Mol. Genet. Metab. 2011, 102:29-32.
13. Zschocke J., Mallory J.P., Eiken H.G., Nevin N.C. Phenylketonuria and the peoples of Northern Ireland. Hum. Genet. 1997, 100:189-194.
14. Ozalp I., Coskun T., Tokatli A., Kalkanoglu H.S., Dursun A., Tokol S., Koksal G., Ozguc M., Kose R. Newborn PKU screening in Turkey: at present and organization for future. Turk. J. Pediatr. 2001, 43:97-101.
15. Guldberg P., Romano V., Ceratto N., Bosco P., Ciuna M., Indelicato A., Mollica F., Meli C., Giovannini M., Riva E., et al. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. Hum. Mol. Genet. 1993, 2:1703-1707.
16. Guldberg P., Henriksen K.F., Sipila I., Guttler F., de la Chapelle A. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. J. Med. Genet. 1995, 32:976-978.
17. Zhan J.Y., Qin Y.F., Zhao Z.Y. Neonatal screening for congenital hypothyroidism and phenylketonuria in China. World J. Pediatr. 2009, 5:136-139.
18. Jiang J., Ma X., Huang X., Pei X., Liu H., Tan Z., Zhu L. A survey for the incidence of phenylketonuria in Guangdong, China. Southeast Asian J. Trop. Med. Public Health 2003, 34(Suppl 3):185.
19. Aoki K., Ohwada M., Kitagawa T. Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan. J. Inherit. Metab. Dis. 2007, 30:608.
20. Donlon J., Levy H.L., Scriver C.R. Hyperphenylalanine: phenylalanine hydroxylase deficiency. The Online Metabolic and Molecular Bases of Inherited Diseases 2010, McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler (Eds.).
21. Opladen T., Abu Seda B., Rassi A., Thony B., Hoffmann G.F., Blau N. Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5years experience. J. Inherit. Metab. Dis. 2011, 34:819-826.
22. Dworniczak B., Aulehla-Scholz C., Kalaydjieva L., Bartholome K., Grudda K., Horst J. Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics 1991, 11:242-246.