title: 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.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Sung-Min
authors.initials: SM
authors.lastname: Choi
authors.forename: Gyoung-Yim
authors.initials: GY
authors.lastname: Ha
authors.forename: Hee Jung
authors.initials: HJ
authors.lastname: Kang
authors.forename: Won-Duck
authors.initials: WD
authors.lastname: Kim
mesh_terms: D002648:Child; D003184:Complement C7 / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D020080:Tandem Repeat Sequences
chemical_list: D003184:Complement C7