Unknown

Dataset Information

0

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.

SUBMITTER: Casimir CM 

PROVIDER: S-EPMC51317 | biostudies-other | 1991 Apr

REPOSITORIES: biostudies-other

Json Xml
altmetric image

Publications

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

Casimir C M CM   Bu-Ghanim H N HN   Rodaway A R AR   Bentley D L DL   Rowe P P   Segal A W AW  

Proceedings of the National Academy of Sciences of the United States of America 19910401 7

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 b  ...[more]

Similar Datasets

Unknown Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency.
| S-EPMC9537221 | biostudies-literature
Unknown Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
| S-EPMC4568122 | biostudies-literature
Unknown Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).
| S-EPMC1683885 | biostudies-other
Unknown A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.
| S-EPMC2759653 | biostudies-literature
Unknown Olfm4 deletion enhances defense against Staphylococcus aureus in chronic granulomatous disease.
| S-EPMC3754258 | biostudies-literature
Unknown Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review.
| S-EPMC9880252 | biostudies-literature
Unknown Autosomal Recessive Polycystic Kidney Disease.
| S-EPMC5528912 | biostudies-other
Unknown Chronic granulomatous disease.
| S-EPMC3558921 | biostudies-literature
Unknown Chronic granulomatous disease.
| S-EPMC5127417 | biostudies-literature
Unknown Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
| S-EPMC5147899 | biostudies-literature