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Article

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

American journal of human genetics - 5 Feb 2015

Rutsch Frank, MacDougall Mary, Lu Changming, Buers Insa, Mamaeva Olga, Nitschke Yvonne, Rice Gillian I, Erlandsen Heidi, Kehl Hans Gerd, Thiele Holger, Nürnberg Peter, Höhne Wolfgang, Crow Yanick J, Feigenbaum Annette, Hennekam Raoul C

Abstract excerpt

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. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense...

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Source

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Identifiers

PMID: 25620204
DOI: 10.1016/j.ajhg.2014.12.014
PMCID: PMC4320263

Genes

IFIH1
SMS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.PMID 25620204Read ↗

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Semantic proximity Read ↗

Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1Semantic proximity Read ↗

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.Semantic proximity Read ↗

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.Semantic proximity Read ↗

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.Semantic proximity Read ↗

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.Semantic proximity Read ↗

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<i>IFIH1</i>loss-of-function predisposes to inflammatory and SARS-CoV-2-related infectious diseasesSemantic proximity Read ↗

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

IFIH1 loss-of-function predisposes to inflammatory and SARS-CoV-2-related infectious diseasesSemantic proximity Read ↗

Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.Semantic proximity Read ↗

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