title: Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.
abstract: Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation with a severe outcome. We report mutation analysis in a cohort of 12 patients. Twelve mutations were identified of which 9 have not been reported so far (G28C, D32N, R178Q, P230R, D231H, 179delG, 802delG, 69-70insTGTGC, and 609-1g>a). Altogether, including our results, 22 mutations of the CAC gene have been published to date in 23 patients demonstrating the allelic heterogeneity of CAC deficiency. DNA-based prenatal diagnosis was performed for the first time in pregnancies at risk for CAC deficiency. Two fetuses were affected and one pregnancy was terminated by family decision. Two other fetuses had normal genotype and five others were heterozygotes. All the offspring of these seven pregnancies are alive and apparently healthy.
authors.affiliation: Laboratoire de biochimie, AP-HP hôpital H Mondor, France.
authors.forename: C
authors.initials: C
authors.lastname: Costa
authors.forename: J M
authors.initials: JM
authors.lastname: Costa
authors.forename: A
authors.initials: A
authors.lastname: Slama
authors.forename: A
authors.initials: A
authors.lastname: Boutron
authors.forename: C
authors.initials: C
authors.lastname: Vequaud
authors.forename: A
authors.initials: A
authors.lastname: Legrand
authors.forename: M
authors.initials: M
authors.lastname: Brivet
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D002333:Carnitine Acyltransferases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D004247:DNA / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D009154:Mutation; D010084:Oxidation-Reduction; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005227:Fatty Acids; D004247:DNA; D002333:Carnitine Acyltransferases