Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption. Interferon signature genes were upregulated in SMS individuals’ blood and dental cells. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 ( IFIH1, encoding melanoma differentiation-associated protein 5 ) in four SMS subjects from two families and a simplex case. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. Retrieved 28 August 2021.Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. One could argue that in most cases, if not all, a static class can imitate the behavior of a Singleton class fairly well. A Static Class, on the other hand, contains only static methods and attributes and therefore does not require instantiation. Singleton design pattern is used in core Java classes also (for example,, ). Singleton design pattern is also used in other design patterns like Abstract Factory, Builder, Prototype, Facade, etc. "Singleton Pattern: The Root of All Evil". A Singleton class is a class which can have at the most one instance. Singleton pattern is used for logging, drivers objects, caching, and thread pool.
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