Abstract: Intrafamilial Variable Phenotypic Expression of a CIAS1 Mutation: From Muckle-Wells to Chronic Infantile Neurological Cutaneous and Articular Syndrome

Intrafamilial Variable Phenotypic Expression of a CIAS1 Mutation: From Muckle-Wells to Chronic Infantile Neurological Cutaneous and Articular Syndrome

VÉRONIQUE HENTGEN, VÉRONIQUE DESPERT, ANNE-CLAIRE LEPRÊTRE, LAURENCE CUISSET, JACQUELINE CHEVRANT-BRETON, PATRICK JÉGO, GÉRARD CHALÈS, EDOUARD Le GALL, MARC DELPECH, and GILLES GRATEAU

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. (J Rheumatol 2005;32:747-51)

Key Indexing Terms:

HEREDITARY FEVER SYNDROMES
ARTHRITIS/GENETICS
URTICARIA/GENETICS
HUMAN

From the Département de médecine de l'Enfant et de l'Adolescent, Service de Dermatologie, Service de Rhumatologie, Service de Médecine Interne, Centre Hospitalier Régional et Universitaire de Rennes, Rennes; Biochimie et Génetique Moléculaire, Institut Cochin de Génetique Moléculaire, Université Paris V, Paris; and Service de Médecine Interne, Hôtel-Dieu, Paris, France.

V. Hentgen, MD; V. Despert, MD; J. Chevrant-Breton, MD; P. Jégo, MD; G. Chalès, MD; E. Le Gall, MD, PhD, Centre Hospitalier Régional et Universitaire de Rennes; A-C. Leprêtre, MD; L. Cuisset, PhD; M. Delpech, MD, PhD, Institut Cochin de Génetique Moléculaire; G. Grateau, MD, PhD, Institut Cochin de Génetique Moléculaire and Hôtel-Dieu Paris.

Address reprint requests to Dr. V. Hentgen, Service de pédiatrie, Centre Hospitalier de Versailles, 177 rue de Versailles, 78150 Le Chesnay, France. E-mail: vhentgen@ch-versailles.fr

Accepted March 10, 2004.