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Novel Mutations Causing C5 Deficiency in Three North-African Families.

Abstract：

:The complement system plays a central role in defense to encapsulated bacteria through opsonization and membrane attack complex (MAC) dependent lysis. The three activation pathways (classical, lectin, and alternative) converge in the cleavage of C5, which initiates MAC formation and target lysis. C5 deficiency is associated to recurrent infections by Neisseria spp. In the present study, complement deficiency was suspected in three families of North-African origin after one episode of invasive meningitis due to a non-groupable and two uncommon Meningococcal serotypes (E29, Y). Activity of alternative and classical pathways of complement were markedly reduced and the measurement of terminal complement components revealed total C5 absence. C5 gene analysis revealed two novel mutations as causative of the deficiency: Family A propositus carried a homozygous deletion of two adenines in the exon 21 of C5 gene, resulting in a frameshift and a truncated protein (c.2607_2608del/p.Ser870ProfsX3 mutation). Families B and C probands carried the same homozygous deletion of three consecutive nucleotides (CAA) in exon 9 of the C5 gene, leading to the deletion of asparagine 320 (c.960_962del/p.Asn320del mutation). Family studies confirmed an autosomal recessive inheritance pattern. Although sharing the same geographical origin, families B and C were unrelated. This prompted us to investigate this mutation prevalence in a cohort of 768 North-African healthy individuals. We identified one heterozygous carrier of the p.Asn320del mutation (allelic frequency = 0.065 %), indicating that this mutation is present at low frequency in North-African population.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Colobran R,Franco-Jarava C,Martín-Nalda A,Baena N,Gabau E,Padilla N,de la Cruz X,Pujol-Borrell R,Comas D,Soler-Palacín P,Hernández-González M

doi

10.1007/s10875-016-0275-4

subject

Has Abstract

pub_date

2016-05-01 00:00:00

pages

388-96

issue

4

eissn

0271-9142

issn

1573-2592

pii

10.1007/s10875-016-0275-4

journal_volume

36

pub_type

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