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European Journal of Pediatrics
Published in: European Journal of Pediatrics 12/2005

01-12-2005 | Short Report

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome

Authors: Hidetoshi Takada, Koichi Kusuhara, Akihiko Nomura, Shouichi Ohga, Mikiko Hayashi, Masutaka Furue, Toshiro Hara

Published in: European Journal of Pediatrics | Issue 12/2005

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Excerpt

We report here a Japanese patient with chronic infantile neurological cutaneous and articular (CINCA) syndrome with a novel mutation in the CIAS1gene. …
Literature
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Frenkel J, van Kempen MJ, Kuis W, van Amstel HK (2004) Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. Arthritis Rheum 50: 2719–2720CrossRefPubMed
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Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 29: 301–305CrossRefPubMed
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Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthiere C (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 24: 194–198CrossRefPubMed
Metadata
Title
A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome
Authors
Hidetoshi Takada
Koichi Kusuhara
Akihiko Nomura
Shouichi Ohga
Mikiko Hayashi
Masutaka Furue
Toshiro Hara
Publication date
01-12-2005
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 12/2005
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-005-1750-8

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