Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro
Samo za registrovane korisnike
2006
Autori
Stojiljković, MojcaJovanović, J.
Đorđević, M.
Grković, S.
Drazić, M. Cvorkov
Petručev, Branka
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Tošić, Nataša
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Karan-Đurašević, Teodora
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Stojanov, L.
Pavlović, S.
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Članak u časopisu (Objavljena verzija)
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Metapodaci
Prikaz svih podataka o dokumentuApstrakt
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Caucasians. PKU is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report the spectrum and the frequency of mutations in the PAH gene and discuss genotype-phenotype correlation in 34 unrelated patients with PKU from Serbia and Montenegro. Using both polymerase chain reaction-restriction fragment length polymorphism and 'broad-range' denaturing-gradient gel electrophoresis/DNA sequencing analysis, 19 disease-causing mutations were identified, corresponding to mutation detection rate of 97%. The most frequent ones were L48S (21%), R408W (18%), P281L (9%), E390G (7%) and R261Q (6%), accounting for 60% of all mutant alleles. The genotype-phenotype correlation was studied in homozygous and functionally hemizygous patients. We found that the most frequent mutation, L48S, was exclusively associated with the classical (severe) PKU phenotype. The mutation E390G gave rise t...o mild PKU. For the mutation R261Q, patients had been recorded in two phenotype categories. Considering allele frequencies, PKU in Serbia and Montenegro is heterogeneous, reflecting numerous migrations over the Balkan Peninsula.
Ključne reči:
phenylketonuria / phenylalanine hydroxylase gene / mutation analysis / genotype-phenotype correlationIzvor:
Clinical Genetics, 2006, 70, 2, 151-155Izdavač:
- Wiley, Hoboken
Finansiranje / projekti:
- Strukturalni elementi genoma u modulaciji fenotipa (RS-MESTD-MPN2006-2010-143051)
DOI: 10.1111/j.1399-0004.2006.00650.x
ISSN: 0009-9163
PubMed: 16879198
WoS: 000238883900011
Scopus: 2-s2.0-33745811686
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Stojiljković, Mojca AU - Jovanović, J. AU - Đorđević, M. AU - Grković, S. AU - Drazić, M. Cvorkov AU - Petručev, Branka AU - Tošić, Nataša AU - Karan-Đurašević, Teodora AU - Stojanov, L. AU - Pavlović, S. PY - 2006 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/252 AB - Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Caucasians. PKU is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report the spectrum and the frequency of mutations in the PAH gene and discuss genotype-phenotype correlation in 34 unrelated patients with PKU from Serbia and Montenegro. Using both polymerase chain reaction-restriction fragment length polymorphism and 'broad-range' denaturing-gradient gel electrophoresis/DNA sequencing analysis, 19 disease-causing mutations were identified, corresponding to mutation detection rate of 97%. The most frequent ones were L48S (21%), R408W (18%), P281L (9%), E390G (7%) and R261Q (6%), accounting for 60% of all mutant alleles. The genotype-phenotype correlation was studied in homozygous and functionally hemizygous patients. We found that the most frequent mutation, L48S, was exclusively associated with the classical (severe) PKU phenotype. The mutation E390G gave rise to mild PKU. For the mutation R261Q, patients had been recorded in two phenotype categories. Considering allele frequencies, PKU in Serbia and Montenegro is heterogeneous, reflecting numerous migrations over the Balkan Peninsula. PB - Wiley, Hoboken T2 - Clinical Genetics T1 - Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro EP - 155 IS - 2 SP - 151 VL - 70 DO - 10.1111/j.1399-0004.2006.00650.x ER -
@article{ author = "Stojiljković, Mojca and Jovanović, J. and Đorđević, M. and Grković, S. and Drazić, M. Cvorkov and Petručev, Branka and Tošić, Nataša and Karan-Đurašević, Teodora and Stojanov, L. and Pavlović, S.", year = "2006", abstract = "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Caucasians. PKU is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report the spectrum and the frequency of mutations in the PAH gene and discuss genotype-phenotype correlation in 34 unrelated patients with PKU from Serbia and Montenegro. Using both polymerase chain reaction-restriction fragment length polymorphism and 'broad-range' denaturing-gradient gel electrophoresis/DNA sequencing analysis, 19 disease-causing mutations were identified, corresponding to mutation detection rate of 97%. The most frequent ones were L48S (21%), R408W (18%), P281L (9%), E390G (7%) and R261Q (6%), accounting for 60% of all mutant alleles. The genotype-phenotype correlation was studied in homozygous and functionally hemizygous patients. We found that the most frequent mutation, L48S, was exclusively associated with the classical (severe) PKU phenotype. The mutation E390G gave rise to mild PKU. For the mutation R261Q, patients had been recorded in two phenotype categories. Considering allele frequencies, PKU in Serbia and Montenegro is heterogeneous, reflecting numerous migrations over the Balkan Peninsula.", publisher = "Wiley, Hoboken", journal = "Clinical Genetics", title = "Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro", pages = "155-151", number = "2", volume = "70", doi = "10.1111/j.1399-0004.2006.00650.x" }
Stojiljković, M., Jovanović, J., Đorđević, M., Grković, S., Drazić, M. C., Petručev, B., Tošić, N., Karan-Đurašević, T., Stojanov, L.,& Pavlović, S.. (2006). Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. in Clinical Genetics Wiley, Hoboken., 70(2), 151-155. https://doi.org/10.1111/j.1399-0004.2006.00650.x
Stojiljković M, Jovanović J, Đorđević M, Grković S, Drazić MC, Petručev B, Tošić N, Karan-Đurašević T, Stojanov L, Pavlović S. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. in Clinical Genetics. 2006;70(2):151-155. doi:10.1111/j.1399-0004.2006.00650.x .
Stojiljković, Mojca, Jovanović, J., Đorđević, M., Grković, S., Drazić, M. Cvorkov, Petručev, Branka, Tošić, Nataša, Karan-Đurašević, Teodora, Stojanov, L., Pavlović, S., "Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro" in Clinical Genetics, 70, no. 2 (2006):151-155, https://doi.org/10.1111/j.1399-0004.2006.00650.x . .