NDLI: Rare Duplication or Deletion of Exons 6, 7 and 8 in CYBB Leading to X-Linked Chronic Granulomatous Disease in Two Patients from Different Families

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Rare Duplication or Deletion of Exons 6, 7 and 8 in CYBB Leading to X-Linked Chronic Granulomatous Disease in Two Patients from Different Families

Content Provider	Springer Nature Link
Author	Stasia, Marie José Leeuwen, Karin Boer, Martin Martel, Cecile Mollin, Michele Thuret, Isabelle Michel, Gerard Hanson, Celine Augustine, Nancy H. Coutton, Charles Satre, Véronique Wittwer, Carl T. Hill, Harry Roos, Dirk
Copyright Year	2012
Abstract	Chronic granulomatous disease (CGD) is a rare congenital disorder in which phagocytes cannot generate superoxide (O 2 − ) and other microbicidal oxidants due to mutations in one of the five components of the O 2 − -generating NADPH oxidase complex. The most common form is caused by mutations in CYBB on the X chromosome, encoding gp91phox, the enzymatic subunit of the phagocyte NADPH oxidase. Here, we report two rare cases of male X-linked CGD patients, one caused by a 5.7-kb duplication of a region containing CYBB exons 6 to 8 and the other caused by a deletion of this same region. We found both the duplication in patient 1 and the deletion in patient 2 to be bordered by a GT repeat. Indeed, in control DNA, the 3′ part of CYBB intron 5 contains a GT repeat and the 5′ part of intron 8 also contains such a repeat. Duplication of exons 6, 7 and 8 in patient 1 was probably caused by a non-homologous crossing over between the two GT repeats. The deletion found in patient 2 probably arose from a similar misalignment. The results found in these patients were confirmed by multiplex ligation-dependent probe amplification. The clinical profile of XCGD is severe in both patients.
Starting Page	653
Ending Page	662
Page Count	10
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	32
Issue Number	4
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2012-03-02
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Chronic granulomatous disease CYBB gene duplication deletion gp91phox NADPH oxidase Immunology Medical Microbiology Internal Medicine Infectious Diseases
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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