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Article

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

American journal of human genetics - 5 Feb 2015

Jang Mi-Ae, Kim Eun Kyoung, Now Hesung, Nguyen Nhung T H, Kim Woo-Jong, Yoo Joo-Yeon, Lee Jinhyuk, Jeong Yun-Mi, Kim Cheol-Hee, Kim Ok-Hwa, Sohn Seongsoo, Nam Seong-Hyeuk, Hong Yoojin, Lee Yong Seok, Chang Sung-A, Jang Shin Yi, Kim Jong-Won, Lee Myung-Shik, Lim So Young, Sung Ki-Sun, Park Ki-Tae, Kim Byoung Joon, Lee Joo-Heung, Kim Duk-Kyung, Kee Changwon, Ki Chang-Seok

Abstract excerpt

Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and information about its phenotypic heterogeneity remain unknown. Recently, we found a family affected by glaucoma,...

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Identifiers

PMID: 25620203
DOI: 10.1016/j.ajhg.2014.11.019
PMCID: PMC4320253

Genes

SMS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.PMID 25620203Read ↗

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Clinical Implications of a New DDX58 Pathogenic Variant That Causes Lupus Nephritis due to RIG-I HyperactivationSemantic proximity Read ↗

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DNA methylation and single-nucleotide polymorphisms in DDX58 are associated with hand, foot and mouth disease caused by enterovirus 71.Semantic proximity Read ↗

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