Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.

Abstract:

:Complement C7 deficiency is an autosomal recessive disorder well known to be associated with increased susceptibility to meningococcal infection and has mostly been reported in Caucasians. In the Korean population, no case of C7 deficiency has been reported to date. Recently we experienced an 11-yr-old girl with meningococcal meningitis who was diagnosed as having C7 deficiency based upon the undetectable serum C7 protein on radial immunodiffusion and the undetectable serum total and C7 hemolytic activities. To identify the genetic basis of the C7 deficiency of the patient, we performed a mutation analysis for the C7 gene and found two novel mutations; a point mutation at the 3' splice acceptor site of intron 4 (c.281-1G>T) and a large deletion mutation encompassing almost the whole C7 gene from exon 1 to exon 17 (c.1-?_2350+?del). A haplotype analysis showed that the large deletion mutation was inherited from the patient's father. To the best of our knowledge, this is the first confirmed case of C7 deficiency in Korea.

journal_name

J Korean Med Sci

authors

Ki CS,Kim JW,Kim HJ,Choi SM,Ha GY,Kang HJ,Kim WD

doi

10.3346/jkms.2005.20.2.220

keywords:

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

220-4

issue

2

eissn

1011-8934

issn

1598-6357

pii

200504220

journal_volume

20

pub_type

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