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PAH mutational spectrum: still expanding

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DOI: 10.4236/ojgen.2011.12002    5,955 Downloads   11,410 Views  

ABSTRACT

Phenylketonuria (PKU, MIM 261600) is the most common inborn error of amino acid metabolism. To date, a total of more than 500 mutations have been associated with the disease. In this report, the novel p.Glu182Lys mutation, found in a Portuguese family in combination with the previously reported p.Leu 348Val, is presented and its putative deleterious impact discussed.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

Vilarinho, L. , Esteves, S. , Ramos, E. , Amorim, A. and Azevedo, L. (2011) PAH mutational spectrum: still expanding. Open Journal of Genetics, 1, 9-12. doi: 10.4236/ojgen.2011.12002.

References

[1] Loeber, J.G. (2007) Neonatal screening in Europe; the situation in 2004. Journal of Inherited Metabolic Disease, 30, 430-438. doi:10.1007/s10545-007-0644-5
[2] Williams, R.A., Mamotte, C.D. and Burnett, J.R. (2008) Penhylketonuria: An inborn error of phenylalanine me-tabolism. Clinical Biochemistry, 29, 31-41.
[3] Woo, S.L., Lidsky, A.S., Gütler, F., Chandra, T. and Rob-son, K.J. (1983) Cloned human phenylalanine hy-droxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature, 306, 151-155. doi:10.1038/306151a0
[4] Scriver, C.R., Hurtubise, M., Konecki, D., Phommarinh, M., Prevost, L., Erlandsen, H., Stevens, R., Waters, P.J., Ryan, S., McDonald, D. and Sarkissian, C. (2003) PAHdb 2003: What a locus-specific knowledgebase can do. Hu-man Mutation, 21, 333-334. http://www.pahdb.mcgill. Ca
[5] Human Genetic Mutation Database. http://www.hgmd.cf.ac.uk/
[6] 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. and Jung, S.C. (2004) The molecular basis of phenylketonuria in Koreans. Journal of Human Genetics, 49, 617-621. doi:10.1007/s10038-004-0197-5
[7] Daniele, A., Cardillo, G., Pennino, C., Carbone, M.T., Scognamiglio, D., Correra, A., Pignero, A., Castaldo, G. and Salvatore, F. (2007) Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: A 96% detection rate with ten novel mutations. Annals of Human Genetics, 71, 185-193. doi:10.1111/j.1469-1809.2006.00328.x
[8] Zschocke, J. (2003) Phenylketonuria mutations in Europe. Human Mutation, 21, 345-356. doi:10.1002/humu.10192
[9] Kasnauskiene, J., Giannattasio, S., Lattanzio, P., Cimba-listiene, L. and Kucinskas, V. (2003) The molecular basis of phenylketonuria in Lithuania. Human Mutation, 21, 398-403. doi:10.1002/humu.9113
[10] Zschocke, J. and Hoffmann, G.F. (1999) Phenylketonuria mutations in Germany. Human Mutation, 104, 390-398. doi:10.1007/s004390050973
[11] Guldberg, P., Levy, H.L., Hanley, W.B., Koch, R., Mata-lon, R., Rouse, B.M., Trefz, F., De la Cruz, F., Henriksen, K.F. and Guttler, F. (1996) Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Collaborative Study. The American Jour-nal of Human Genetics, 59, 684-694.
[12] Eiken, H.G., Knappskog, P.M., Boman, H., Thune, K.S., Kaada, G., Motzfeldt, K. and Apold, J. (1996) Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. European Journal of Human Genetics, 4, 205-213.
[13] Rivera, I., Leandro, P., Lichter-Konecki, U., Almeida, I.T. and Lechner, M.C. (1998) Population genetics of hyper-phenylalaninaemia resulting from phenylalanine hydrox-ylase deficiency in Portugal. Journal of Medical Genetics, 35, 301-304. doi:10.1136/jmg.35.4.301
[14] Vilarinho, L., Queirós, A., Leandro, P., Almeida, I.T. and Rivera I. (2006) Fenilcetonúria Revisitada. Arquivos de Medicina, 20, 161-171.
[15] Santos, L.L., Castro-Magalh?es, M., Fonseca, C.G., Starling, A.L.P., Januário, J.N., Aguiar, M.J.B. and Car-valho, M.R.S. (2008) PKU in minas Gerais state, Brazil: Mutation analysis. Annals of Human Genetics, 72, 774-779. doi:10.1111/j.1469-1809.2008.00476.x
[16] Ensembl Genome Browser. http://www.ensembl.org
[17] Edgar, R.C. (2004) MUSCLE: Multiple sequence align-ment with high accuracy and high throughput. Nucleic Acids Research, 32, 1792-1797. doi:10.1093/nar/gkh340
[18] Drummond, A.J., Ashton, B., Buxton, S., Cheung, M., Cooper, A., Heled, J., Kearse, M., Moir, R., Stones-Ha- vas, S., Sturrock, S., Thierer, T. and Wilson A. (2010) Inspirational Software for Biologiests, Geneious. http://www.geneious.com
[19] Eisensmith, R.C. and Woo, S.L. (1995) Molecular genet-ics of phenylketonuria: From molecular anthropology to gene therapy. Advances in Genetics, 32, 199-271. doi:10.1016/S0065-2660(08)60206-0
[20] Polyphen: Prediction of functional effect of human nsSNPs. http://genetics.bwh.harvard.edu/pph
[21] Sorting Intolerant from Tolerant (SIFT). http://blocks.fhcrc.org/sift/SIFT.html
[22] Dipple, K.M. and McCabe, E.R.B. (2000) Phenotypes of patients with “simple” mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics. The American Journal of Human Genetics, 66, 1729-1735. doi:10.1086/302938
[23] Scriver C.R. and Waters, P.J. (1999) Monogenic traits are not simple: Lessons from phenylketonuria. Trends in Genetics, 15, 267-272. doi:10.1016/S0168-9525(99)01761-8
[24] Cooper, D.N., Chen, J., Ball, E.V., Howells, K., Mort, M., Philips, A.D., Chuzhanova, N., Krawczak, M., Kehrer- Sawatzki, H. and Stenson, P.D. (2010) Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation, 31, 631-655. doi:10.1002/humu.21260

  
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