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Characterization of six novel mutations in CYBA : the gene causing autosomal recessive chronic granulomatous disease *
Author(s) -
Teimourian Shahram,
Zomorodian Elham,
Badalzadeh Mohsen,
Pouya AliReza,
Kannengiesser Caroline,
Mansouri Davood,
Cheraghi Taher,
Parvaneh Nima
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07148.x
Subject(s) - frameshift mutation , chronic granulomatous disease , exon , missense mutation , genetics , biology , mutation , intron , gene , splice site mutation , microbiology and biotechnology , alternative splicing
Summary 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).