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Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B

Wiszniewski, W.
Fondaneche, M. C.
Lambert, N.
Picard, C.
Notarangelo, L.
Schwartz, K.
Bal, J.
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Published in Immunogenetics. 2000, vol. 51, no. 4-5, p. 261-267
Abstract Expression of major histocompatibility complex (MHC) class II genes is controlled at the transcriptional level by at least four trans-acting genes, CIITA, RFXANK, RFX5, and RFXAP. Defects in these regulatory genes result in the absence of MHC class II molecule expression and, thereby, cause a combined immunodeficiency. MHC class II deficiency is inherited as an autosomal recessive trait. Since the first description of the disease, about 70 patients from 50 families have been reported. Forty-three of these families have been classified into four complementation groups: A, B, C, and D. In the largest group, B, the majority of patients are of North African origin. In two of these patients, the same mutation in the RFXANK gene (752delG-25) was identified. We performed a mutation analysis in 20 additional patients belonging to complementation group B and detected the 752delG-25 mutation in 17. All of these patients are of North African origin. A founder effect for this mutation was documented, since all tested patients, except one, display a common haplotype spanning the RFXANK locus.
Keywords Africa, Northern/ethnologyBase SequenceChromosomes, Human, Pair 19/geneticsConsanguinityFemaleFounder EffectGenes, MHC Class IIGenetic Complementation TestHaplotypesHistocompatibility Antigens Class II/ geneticsHumansImmunologic Deficiency Syndromes/ geneticsMaleMicrosatellite RepeatsMolecular Sequence DataPedigreePolymorphism, Single-Stranded ConformationalSequence DeletionTranscription Factors/ genetics
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PMID: 10803838
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