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

Abstract

Gain-of-function mutations in IFIH1 encoding interferon-induced helicase C domain-containing protein 1 were identified in a spectrum of human disease phenotypes^1-4 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.

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