A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

European Journal of Pediatrics
Claudia FioriniAhmed Helal

Abstract

Mutations in activation-induced cytidine deaminase can cause an autosomal recessive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daughters and two affected sons. We found a homozygous transversion G to T in the two sons while heterozygosity for the mutation was found in all other family members. This alteration is 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. This is a novel mutation found in the gene encoding for activation-induced cytidine deaminase in a Tunisian family with hyper-IgM type 2 syndrome. This alteration leads to the use of two cryptic splicing sites causing the formation of two different mRNA species.

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Citations

Jun 21, 2005·Scandinavian Journal of Immunology·L Ohm-LaursenT Barington
Jan 5, 2011·American Journal of Medical Genetics. Part a·Lilia RomdhaneUNKNOWN Collaborators
Jun 28, 2013·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Nadine CaratãoVasco M Barreto
Jul 14, 2017·Frontiers in Immunology·Mohamed-Ridha BarboucheImen Ben-Mustapha

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