摘要
Mutations in activation-induced cytidine deaminase can cause an autosomal rec essive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daughters and two affecte d sons. We found a homozygous transversion G to T in the two sons while heterozy gosity for the mutation was found in all other family members. This alteration i s localised in intron 2 at the +1 position resulting in defective splicing. Use of various intronic cryptic splice-sites led to expression of various aberrant mRNA species. Conclusion: This is a novel mutation found in the gene encoding f or activation-induced cytidine deaminase in a Tunisian family with hyper-IgM t ype 2 syndrome. This alteration leads to the use of two cryptic splicing sites c ausing the formation of two different mRNA species.
Mutations in activation-induced cytidine deaminase can cause an autosomal rec essive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daughters and two affecte d sons. We found a homozygous transversion G to T in the two sons while heterozy gosity for the mutation was found in all other family members. This alteration i s localised in intron 2 at the +1 position resulting in defective splicing. Use of various intronic cryptic splice-sites led to expression of various aberrant mRNA species. Conclusion: This is a novel mutation found in the gene encoding f or activation-induced cytidine deaminase in a Tunisian family with hyper-IgM t ype 2 syndrome. This alteration leads to the use of two cryptic splicing sites c ausing the formation of two different mRNA species.
