RGD Reference Report - A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. - Rat Genome Database

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

Authors: Fiorini, C  Jilani, S  Losi, CG  Silini, A  Giliani, S  Ferrari, S  Notarangelo, LD  Plebani, A  Sfar, T  Helal, A 
Citation: Fiorini C, etal., Eur J Pediatr. 2004 Dec;163(12):704-8.
RGD ID: 11039485
Pubmed: PMID:15372234   (View Abstract at PubMed)
DOI: DOI:10.1007/s00431-004-1540-8   (Journal Full-text)

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. CONCLUSION: 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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AICDAHumanhyperimmunoglobulin syndrome  IAGP DNA:splice-site mutation:intron:IVS2+1G>T (human)RGD 
AicdaRathyperimmunoglobulin syndrome  ISOAICDA (Homo sapiens)DNA:splice-site mutation:intron:IVS2+1G>T (human)RGD 
AicdaMousehyperimmunoglobulin syndrome  ISOAICDA (Homo sapiens)DNA:splice-site mutation:intron:IVS2+1G>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aicda  (activation-induced cytidine deaminase)

Genes (Mus musculus)
Aicda  (activation-induced cytidine deaminase)

Genes (Homo sapiens)
AICDA  (activation induced cytidine deaminase)


Additional Information