1. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
- Author
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Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, and de Saint Basile G
- Subjects
- Amino Acid Sequence, Arthritis congenital, Base Sequence, Child, Chondrocytes metabolism, Chronic Disease, Female, Gene Expression, Humans, Infant, Infant, Newborn, Inflammation congenital, Male, Meningitis congenital, Molecular Sequence Data, NLR Family, Pyrin Domain-Containing 3 Protein, Neutrophils metabolism, Pedigree, RNA, Messenger genetics, RNA, Messenger metabolism, Syndrome, Arthritis genetics, Blood Proteins genetics, Carrier Proteins genetics, Inflammation genetics, Meningitis genetics, Mutation, Skin Diseases genetics
- Abstract
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy. In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously shown to cause Muckle-Wells syndrome and familial cold urticaria. Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated. A high level of expression of CIAS1 was found to be restricted to polymorphonuclear cells and chondrocytes. These findings demonstrate that CIAS1 missense mutations can result in distinct phenotypes with only a few overlapping symptoms and suggest that this gene may function as a potential inducer of apoptosis.
- Published
- 2002
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