country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

Singleton-Merten syndrome

Definition:

Singleton-Merten syndrome (SMS) is a rare autosomal-dominant multisystem disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. A gain-of-function mutation in interferon induced with helicase C domain 1 (IFIH1), encoding melanoma differentiation-associated protein 5 (MDA5), causes SMS through dysregulation of the human innate immune response. DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.

References:

[1]. Annette Feigenbaum, et al. Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. Am J Med Genet A. 2013 Feb;161A(2):360-70. [Content Brief]

[2]. Frank Rutsch, et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 5;96(2):275-82. [Content Brief]

[3]. Mi-Ae Jang, et al. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 5;96(2):266-74. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #