Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

B Fournier; J M Saudubray; B Benichou; S Lyonnet; A Munnich; H Clevers; B T Poll-The

doi:10.1172/JCI117365

University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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University Children's Hospital Wilhelmina Kinderziekenhuis, University Hospital Utrecht, The Netherlands.

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Published in Volume 94, Issue 2 on August 1, 1994
J Clin Invest. 1994;94(2):526–531. https://doi.org/10.1172/JCI117365.
© 1994 The American Society for Clinical Investigation

Published August 1, 1994 - Version history

We have cloned the cDNA encoding human peroxisomal acyl-CoA oxidase, the first enzyme in the peroxisomal beta-oxidation of very long chain fatty acids. Its nucleotide sequence was found to be highly homologous (85%) to the rat cDNA counterpart. An 88% homology between rat and human was found in the COOH-terminal end of the cDNA which includes the Ser-Lys-Leu peroxisomal targeting signal common to many peroxisomal proteins. The gene spans approximately 30-40 kb and is poorly polymorphic. Southern blot analyses were performed in two previously reported siblings with an isolated peroxisomal acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy). A deletion of at least 17 kb, starting down-stream from exon 2 and extending beyond the 3' end of the gene, was observed in the two patients. These observations provide a molecular basis for the observed acyl-CoA oxidase deficiency in our family. In addition, our study will enable the characterization of the genetic defect in unrelated families with suspected acyl-CoA oxidase disorders.

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Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

B Fournier, J M Saudubray, B Benichou, S Lyonnet, A Munnich, H Clevers, and B T Poll-The

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Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

B Fournier, J M Saudubray, B Benichou, S Lyonnet, A Munnich, H Clevers, and B T Poll-The

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