A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria
| Autor: | Yoshihiro Takeuchi, Yoshihiro Maruo, Asami Mori, Katsuyuki Matsui, Masafumi Suzaki, Haruo Shintaku, Yu Mimura |
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| Rok vydání: | 2015 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Phenylalanine hydroxylase Mutation Missense Polymerase Chain Reaction Exon Japan Phenylketonurias Pediatric surgery polycyclic compounds medicine Humans Missense mutation Multiplex ligation-dependent probe amplification Gene Sequence Deletion Genetics biology Maternal and child health business.industry Infant Phenylalanine Hydroxylase nutritional and metabolic diseases Exons Molecular biology Pediatrics Perinatology and Child Health biology.protein business |
| Zdroj: | World Journal of Pediatrics. 11:181-184 |
| ISSN: | 1867-0687 1708-8569 |
| DOI: | 10.1007/s12519-015-0020-8 |
| Popis: | Phenylketonuria (PKU) is caused by a defect in phenylalanine hydroxylase (PAH). More than 500 mutations have been reported for the gene encoding PAH. However, approximately 1%-5% of these include large deletions and large duplications that cannot be detected by conventional methods.In this report we tried to fully characterize a PAH-deficient patient. The patient was a 2-year-old Japanese boy who was diagnosed with classical PKU at the time of neonatal screening, which was confirmed by the tetrahydrobiopterin-loading test. PCR-related direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to analyze of the PAH of the patient.Using PCR-related direct sequencing method, we could detect only a heterozygous novel missense mutation: p.136GC (p.G46R). A second mutation was detected by MLPA. The patient was heterozygous for a novel large deletion of exons 12 and 13: c.1200-?_1359+?del (EX12_13del). For genetic counseling, an accurate genetic diagnosis is often necessary.Through a combination of MLPA and conventional methods, the success rate of PAH mutation identification can be close to 100%. |
| Databáze: | OpenAIRE |
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