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
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hyperimmunoglobulin syndrome  IAGP 11039485DNA:splice-site mutation:intron:IVS2+1G>T (human)RGD 
hyperimmunoglobulin syndrome  ISOAICDA (Homo sapiens)11039485; 11039485DNA: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