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Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Jönköping University, School of Health and Welfare. National Oral Disability Centre for Rare DisordersThe Institute for Postgraduate Dental Education, Jönköping, Sweden.
Jönköping University, School of Health and Welfare, HHJ. CHILD. National Oral Disability Centre for Rare DisordersThe Institute for Postgraduate Dental Education, Jönköping, Sweden.ORCID iD: 0000-0003-3123-753X
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
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2017 (English)In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833Article in journal (Refereed) Epub ahead of print
Abstract [en]

Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal. 

Place, publisher, year, edition, pages
John Wiley & Sons, 2017.
Keyword [en]
Exome sequencing, IFIH1, Singleton-Merten syndrome
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:hj:diva-35354DOI: 10.1002/ajmg.a.38214PubMedID: 28319323ScopusID: 2-s2.0-85016014089OAI: oai:DiVA.org:hj-35354DiVA: diva2:1088210
Available from: 2017-04-11 Created: 2017-04-11 Last updated: 2017-04-11

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