Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
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.
Hentgen
Véronique
V
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
Despert
Véronique
V
Leprêtre
Anne-Claire
AC
Cuisset
Laurence
L
Chevrant-Breton
Jacqueline
J
Jégo
Patrick
P
Chalès
Gérard
G
Gall
Edouard Le
EL
Delpech
Marc
M
Grateau
Gilles
G
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
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human