Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5654794 | Clinical Immunology | 2017 | 22 Pages |
Abstract
We report two unrelated patients from highly inbred North African population showing a severe ALPS phenotype and an undetectable Fas surface expression. Two novel homozygous mutations have been identified underlying rare splicing defects mechanisms. The first mutation breaks a branch point sequence and the second alters a regulatory exonic splicing site. These splicing defects induce the skipping of exon 6 encoding the transmembrane domain of CD95. Our findings highlight the requirement of tight regulation of FAS exon 6 splicing for balanced alternative splicing and illustrate the importance of such studies in highly consanguineous populations.
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Authors
Agrebi N., Ben-Mustapha I., Matoussi N., Dhouib N., Ben-Ali M., Mekki N., Ben-Ahmed M., Larguèche B., Ben Becher S., Béjaoui M., Barbouche M.R.,