UNLABELLED: 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.
UNLABELLED: 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.
Authors: Y Minegishi; A Lavoie; C Cunningham-Rundles; P M Bédard; J Hébert; L Côté; K Dan; D Sedlak; R H Buckley; A Fischer; A Durandy; M E Conley Journal: Clin Immunol Date: 2000-12 Impact factor: 3.969
Authors: S Ferrari; S Giliani; A Insalaco; A Al-Ghonaium; A R Soresina; M Loubser; M A Avanzini; M Marconi; R Badolato; A G Ugazio; Y Levy; N Catalan; A Durandy; A Tbakhi; L D Notarangelo; A Plebani Journal: Proc Natl Acad Sci U S A Date: 2001-10-23 Impact factor: 11.205
Authors: R C Allen; R J Armitage; M E Conley; H Rosenblatt; N A Jenkins; N G Copeland; M A Bedell; S Edelhoff; C M Disteche; D K Simoneaux Journal: Science Date: 1993-02-12 Impact factor: 47.728
Authors: P Revy; T Muto; Y Levy; F Geissmann; A Plebani; O Sanal; N Catalan; M Forveille; R Dufourcq-Labelouse; A Gennery; I Tezcan; F Ersoy; H Kayserili; A G Ugazio; N Brousse; M Muramatsu; L D Notarangelo; K Kinoshita; T Honjo; A Fischer; A Durandy Journal: Cell Date: 2000-09-01 Impact factor: 41.582