Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant
| Autor: | Yannis L. Loukas, Elina Molou, Vassiliki Georgiou, Emmanuel Doulgerakis, Yannis Dotsikas, Konstantinos Papadopoulos, Sofia Biti, Georgia Thodi |
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| Rok vydání: | 2012 |
| Předmět: |
Mitochondrial Diseases
Molecular Sequence Data Clinical Biochemistry Urine Biology Acyl-CoA Dehydrogenase Neonatal Screening Carnitine Prevalence medicine Humans Allele Alleles Genetic Association Studies Genetic testing Genetics Newborn screening Base Sequence Greece medicine.diagnostic_test Infant Newborn Sequence Analysis DNA General Medicine Medium-Chain Acyl-CoA Dehydrogenase Deficiency MCADD medicine.disease Cohort Polymorphism Restriction Fragment Length ACADM Gene |
| Zdroj: | Clinical Biochemistry. 45:1167-1172 |
| ISSN: | 0009-9120 |
| DOI: | 10.1016/j.clinbiochem.2012.05.030 |
| Popis: | Objectives The purpose of the current study was to screen newborns in Greece and to identify the responsible mutations for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Design and methods 47.812 neonates were screened for the potential presence of MCADD in Greece, via a LC–MS/MS protocol. The “suspected” samples were subjected to genetic testing via PCR–RFLP and sequencing of the coding region of the ACADM gene. Urine samples were collected and then analyzed with a GC/MS method. Results The MCADD prevalence is 1 in 15,937 births. The alleles c.985A > G and c.245insT were detected in the 29.2% and 20.8% of the “suspected” cohort, respectively. A novel variant with potential pathogenicity was identified. Conclusions The c.245insT allele seems to prevail in the Greek cohort of “suspected” specimens. Therefore, this variant along with the c.985A > G allele could constitute a panel for both prenatal and neonatal MCADD screening in the Greek population. |
| Databáze: | OpenAIRE |
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