Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.

Abstract

Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defects in the X chromosome-linked cytochrome account for the majority of CGD patients, as many as 30% of CGD cases are due to an autosomal recessive disease. Of these, greater than 90% have been shown to be defective in the synthesis of a 47-kDa cytosolic component of the oxidase. We demonstrate here in three unrelated cases of autosomal recessive CGD that the identical underlying molecular lesion is a dinucleotide deletion at a GTGT tandem repeat, corresponding to the acceptor site of the first intron-exon junction. Slippage of the DNA duplex at this site may contribute to the high frequency of defects in this gene.

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@article{Casimir1991AutosomalRC, title={Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.}, author={Colin M Casimir and H N Bu-Ghanim and A R Rodaway and David L. Bentley and Peter S. N. Rowe and Anthony W Segal}, journal={Proceedings of the National Academy of Sciences of the United States of America}, year={1991}, volume={88 7}, pages={2753-7} }