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. 1991 Apr 1;88(7):2753–2757. doi: 10.1073/pnas.88.7.2753

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

C M Casimir 1, H N Bu-Ghanim 1, A R Rodaway 1, D L Bentley 1, P Rowe 1, A W Segal 1
PMCID: PMC51317  PMID: 2011585

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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Selected References

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