TAILIEUCHUNG - Báo cáo khoa học: Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

Hyperphenylalaninemia (Online Mendelian Inheritance in Man database: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylal-aninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrelated hyperphenylalaninemia patients from Southern Italy. | Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy Aurora Daniele1 2 3 Iris Scala4 Giuseppe Cardillo1 5 Cinzia Pennino1 Carla Ungaro4 Michelina Sibilio4 Giancarlo Parenti4 Luciana Esposito6 Adriana Zagari1 Generoso Andria4 and Francesco Salvatore1 2 1 CEINGE-Biotecnologie Avanzate Scarl Naples Italy 2 IRCCS - Fondazione SDN Naples Italy 3 Dipartimento di Scienze per la Salute University delMolise Campobasso Italy 4 Dipartimento di Pediatria Universita di Napoli Federico II Naples Italy 5 Dipartimento di Biochimica e Biotecnologie Mediche Universita di Napoli Federico II Naples Italy 6 CNR - Istituto di Biostrutture e Bioimmagini Naples Italy Keywords BH4-responsiveness hyperphenylalaninemia molecular epidemiology PAH mutation functional analysis PAH structural alterations phenylketonuria Correspondence F. Salvatore CEINGE Biotecnologie Avanzate . via Comunale Margherita 482 I-80145 Napoli Italy Fax 39 081 746 3650 Tel. 39 081 746 4966 E-mail salvator@ G. Andria Dipartimento di Pediatria University di Napoli Federico II Via Sergio Pansini 5 I-80131 Napoli Italy Fax 39 081 746 3116 Tel 39 081 746 2673 E-mail andria@ Received 1 December 2008 revised 22 January 2009 accepted 29 January 2009 doi Hyperphenylalaninemia Online Mendelian Inheritance in Man database 261600 is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase the most severe form of hyperphenylal-aninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrelated hyperphenylalaninemia patients from Southern Italy. The entire locus was genotyped in 46 out of 51 hyper-phenylalaninemia patients and 32 different disease-causing mutations were identified. The pathologic nature of two novel gene variants namely and was demonstrated .

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