Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

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,...

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Bibliographic Details
Published in:American journal of human genetics 2002-07, Vol.71 (1), p.198-203
Main Authors: Feldmann, Jérôme, Prieur, Anne-Marie, Quartier, Pierre, Berquin, Patrick, Certain, Stéphanie, Cortis, Elisabetta, Teillac-Hamel, Dominique, Fischer, Alain, Basile, Geneviève de Saint
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Arthritis - congenital
Arthritis - genetics
Base Sequence
Biological and medical sciences
Blood Proteins - genetics
Carrier Proteins - genetics
Child
Chondrocytes - metabolism
Chronic Disease
Female
Gene Expression
Humans
Infant
Infant, Newborn
Inflammation - congenital
Inflammation - genetics
Male
Medical sciences
Meningitis - congenital
Meningitis - genetics
Molecular Sequence Data
Mutation
Neutrophils - metabolism
NLR Family, Pyrin Domain-Containing 3 Protein
Pedigree
RNA, Messenger - genetics
RNA, Messenger - metabolism
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Skin Diseases - genetics
Syndrome
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/341357