title: Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
abstract: Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases result from distinct missense mutations, with very few overlapping symptoms. We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene. Clinical and genetic observations suggest that Muckle-Wells syndrome, CINCA, and familial cold urticaria are various phenotypic expressions of the same disease.
authors.affiliation: Departement de medecine de l'Enfant et de l'Adolescent, Service de Dermatologie, Centre Hospitalier Regional et Universitaire de Rennes, Rennes, France. vhentgen@ch-versailles.fr
authors.forename: Véronique
authors.initials: V
authors.lastname: Hentgen
authors.forename: Véronique
authors.initials: V
authors.lastname: Despert
authors.forename: Anne-Claire
authors.initials: AC
authors.lastname: Leprêtre
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Chevrant-Breton
authors.forename: Patrick
authors.initials: P
authors.lastname: Jégo
authors.forename: Gérard
authors.initials: G
authors.lastname: Chalès
authors.forename: Edouard Le
authors.initials: EL
authors.lastname: Gall
authors.forename: Marc
authors.initials: M
authors.lastname: Delpech
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
mesh_terms: D000293:Adolescent; D001168:Arthritis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007249:Inflammation / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014581:Urticaria / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human