Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
J Inherit Metab Dis
; 28(6): 877-83, 2005.
Article
en En
| MEDLINE
| ID: mdl-16435180
We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by analysis of their dried blood spots (DBS) by tandem mass spectrometry (MS/MS). The ASL gene was then analysed by direct sequencing. A further 28 patients with a confirmed diagnosis of ASAuria based on MS/MS of their DBS were tested by sequencing for the presence of the Q354X mutation. This mutation was found in 14 out of the 28 patients (50%) tested. Our work indicates that the Q354X allele is common, may account for 50% of the abnormal ASL genes in the Saudi population, and is likely to be associated with the neonatal form of the disease. We recommend that all patients diagnosed with ASAuria in Saudi Arabia or of Arab origin be tested for this mutation and for Q116X, which has been described previously. In addition, further analysis is needed to identify other underlying disease mutations for ASAuria in the Saudi population.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2005
Tipo del documento:
Article
País de afiliación:
Arabia Saudita
Pais de publicación:
Estados Unidos