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Glutaric acidemia type II_ gene structure and mutations.pdf

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Glutaric acidemia type II_ gene structure and mutations

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene Stephen I. Goodman,* Robert J. Binard, Michael R. Woontner, and Frank E. Frerman Department of Pediatrics, University of Colorado Health Sciences Center, Box C233, 4200 East Ninth Avenue, Denver, CO 80262, USA Received 12 May 2002; received in revised form 15 July 2002; accepted 15 July 2002 Abstract Glutaric acidemia type II is a human inborn error of metabolism which can be due to defects in either subunit of electron transfer flavoprotein (ETF) or in ETF:ubiquinone oxidoreductase (ETF:QO), but few disease-causing mutations have been described. The ETF:QO gene is located on 4q33, and contains 13 exons. Primers to amplify these exons are presented, together with mutations identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes. 2002 Elsevier Science (USA). All rights reserved. Keywords: Glutaric acidemia type II; ETF:ubiquinone oxidoreductase 1. Introduction Glutaric acidemia type II is an inborn error of amino- and fatty-acid metabolism characterized by hypoketotic hypoglycemia and fat storage in heart, liver, and renal tubules. In some patients the disorder is due to defi- ciency of electron transfer flavoprotein (ETF) and in others it is due to deficiency of ETF:ubiquinone oxido- reductase (ETF:QO). The ETF:QO gene has been localized to the long arm of human chromosome 4 (4q33) [1] and the human cDNA has been cloned and characterized [2]. Two disease-causing mutations, i.e., IVS12+ 1GT and 427del7, have been described [3], and we have alluded to several others in a recent review [4]. This paper will describe the structure of the ETF:QO gene, primers that can be used to amplify its exons, and several novel mutations that appear to be disease-causing. 2. Materials and methods 2.1. Gene structure All intervening sequences except int