Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.
OBJECTIVE
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).


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.
Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Vithinias 17, Nea Ionia GR-142 34, Athens, Greece. info@neoscreengr.com
Georgia
G
Thodi
Vassiliki
V
Georgiou
Elina
E
Molou
Yannis L
YL
Loukas
Yannis
Y
Dotsikas
Sofia
S
Biti
Konstantinos
K
Papadopoulos
Emmanuel
E
Doulgerakis
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D056726:Genetic Association Studies; D006115:Greece / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D028361:Mitochondrial Diseases / Q000453:epidemiology / Q000235:genetics* / Q000652:urine; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D017422:Sequence Analysis, DNA
C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine