5 years ago

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

Y. Aoyama, T. Takeichi, N. Murakami, C. Katayama, M. Akiyama, T. Tanaka, K. Sugiura, M. Kono, Y. Okuno
Gain-of-function mutations in IFIH1 encoding interferon-induced helicase C domain-containing protein 1 were identified in a spectrum of human disease phenotypes1-4 including the overlap between Aicardi–Goutières syndrome (AGS) and Singleton–Merten syndrome (SMS).5 Here we describe a case with a novel IFIH1 missense mutation in the pincer domain. This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/bjd.15869

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