Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria
- 1 December 2005
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 28 (6) , 877-883
- https://doi.org/10.1007/s10545-005-0081-2
Abstract
Summary: 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.Keywords
This publication has 12 references indexed in Scilit:
- Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL geneHuman Genetics, 2002
- Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesJournal of Inherited Metabolic Disease, 2002
- Comprehensive human genome amplification using multiple displacement amplificationProceedings of the National Academy of Sciences, 2002
- Three-Dimensional Structure of the Argininosuccinate Lyase Frequently Complementing Allele Q286R,Biochemistry, 2001
- Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase geneJournal of Inherited Metabolic Disease, 2000
- Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.1999
- HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41QAmerican Journal of Human Genetics, 1998
- cDNA Sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyaseGenomics, 1989
- Cloning and sequence analysis of cDNA for human argininosuccinate lyase.Proceedings of the National Academy of Sciences, 1986
- Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.Proceedings of the National Academy of Sciences, 1978