A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
World J Pediatr
; 11(2): 181-4, 2015 May.
Article
en En
| MEDLINE
| ID: mdl-25920592
ABSTRACT
BACKGROUND:
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.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.RESULTS:
Using PCR-related direct sequencing method, we could detect only a heterozygous novel missense mutation p.136G>C (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.CONCLUSIONS:
Through a combination of MLPA and conventional methods, the success rate of PAH mutation identification can be close to 100%.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenilalanina Hidroxilasa
/
Fenilcetonurias
/
Exones
/
Eliminación de Secuencia
/
Mutación Missense
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
World J Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2015
Tipo del documento:
Article