Two Mutations of the C7 Gene, c.1424G > A and c.281-1G > T, in Two Korean Families |
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| Authors: | Hee Jung Kang Chang-Seok Ki Yeon-Sook Kim Mina Hur So Ick Jang Ki Sik Min |
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| Affiliation: | (1) Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, South Korea;(2) Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea;(3) Department of Internal Medicine, Chungnam National University Hospital, Daejeon, South Korea;(4) Department of Pediatrics, Hallym University College of Medicine, Anyang, Korea;(5) Department of Laboratory Medicine, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, 896 Pyeongchon-dong, Dongan-gu, Anyang-si Gyenggi-do, 431-070, Korea |
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| Abstract: | Complement C7 deficiency is associated with increased susceptibility to meningococcal infection. The genetic alterations of C7 deficiency are known to be sporadic and heterogeneous worldwide. We investigated molecular basis of C7 deficiency in two unrelated Korean families, in which the index cases suffered from meningococcal meningitis. Exon-specific PCR and direct sequencing of the C7 gene revealed two different mutations: c.1424G > A and c.281-1G > T. In family 1, index case and her brother revealed a homozygous mis-sense mutation (c.1424G > A), a novel mutation, which results in the change of cysteine to tyrosine (C475Y) in exon 10. Index case in family 2 was found to be a homozygote carrying point mutation at the 3′ splice acceptor site of intron 3 (c.281-1G > T), which was previously reported in a Korean C7-deficient subject. |
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| Keywords: | Complement 7 deficiency gene mutation Koreans meningococcal infection |
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