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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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Costa C,Costa JM,Slama A,Boutron A,Vequaud C,Legrand A,Brivet M

doi

10.1016/s1096-7192(02)00205-6

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

68-73

issue

1

eissn

1096-7192

issn

1096-7206

pii

S1096719202002056

journal_volume

78

pub_type

杂志文章

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