Characterization of a large genomic deletion in four Irish families with C7 deficiency

Thomas, Andrew David ORCID: https://orcid.org/0000-0002-5474-1205, Orren, Ann, Connaughton, J., Feighery, C., Morgan, Bryan Paul ORCID: https://orcid.org/0000-0003-4075-7676 and Roberts, Andrew Glyn 2012. Characterization of a large genomic deletion in four Irish families with C7 deficiency. Molecular Immunology 50 (1-2) , pp. 57-59. 10.1016/j.molimm.2011.12.002

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Abstract

Inherited deficiency of the seventh complement component (C7) is associated with increased susceptibility to Neisseria meningitidis infections. The disease is rare in most Western countries. Here we report new investigations of alarge, but incompletely characterized genomicdeletion of exons 8 and 9 [c.739-?_1093+?del], previously identified in three unrelated Irishfamilies with C7deficiency. We have analysed DNA from one individual, who is homozygous for the deletion, by PCR using primers progressively proximal to the deleted exons. Thus we were able to map the deletion boundaries. Amplification across the breakpoint and sequencing revealed an indel mutation that included a 6.4 kb deletion together with an insertion of a novel 8 bp sequence [c.739+1262_1270-2387delinsGCAGGCCA]. We demonstrated the same defect in the C7 deficient patients from each family and developed a duplex PCR method to enable the detection of alleles containing the deletion in heterozygotes. A member of a fourth family was found to be homozygous for the deletion defect. Thus, the deletion defect may be a more commonly distributed cause of C7deficiency in Ireland.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Uncontrolled Keywords:	Complement component C7; Complement deficiency; Membrane attack complex; Insertion deletion mutations
Publisher:	Elsevier
ISSN:	01615890
Last Modified:	06 Jul 2023 01:27
URI:	https://orca.cardiff.ac.uk/id/eprint/25624

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