Characterization of six novel mutations in CYBA: The gene causing autosomal recessive chronic granulomatous disease

20Citations
Citations of this article
31Readers
Mendeley users who have this article in their library.
Get full text

Abstract

One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA showed six different novel mutations: deletion of exons 3, 4 and 5; a missense mutation in exon 6 (c.373G>A); a splice site mutation in intron 5 (c.369+1G>A); a frameshift in exon 6 (c.385delGAGC); a frameshift in exon 3 (c.174delG); and a frameshift in exon 4 (c.223delC). © 2008 The Authors.

Cite

CITATION STYLE

APA

Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., … Parvaneh, N. (2008). Characterization of six novel mutations in CYBA: The gene causing autosomal recessive chronic granulomatous disease. British Journal of Haematology, 141(6), 848–851. https://doi.org/10.1111/j.1365-2141.2008.07148.x

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free