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Further evidence fo...
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
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- Pettersson, Maria (författare)
- Karolinska Institutet
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- Bergendal, Birgitta (författare)
- Karolinska Institutet,Jönköping University,Hälsohögskolan,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden
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- Norderyd, Johanna (författare)
- Jönköping University,HHJ. CHILD,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden
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- Nilsson, Daniel (författare)
- Karolinska Institutet
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- Anderlid, Britt-Marie (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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- Nordgren, Ann (författare)
- Karolinska Institutet
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- Lindstrand, Anna (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2017-03-20
- 2017
- Engelska.
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Ingår i: American Journal of Medical Genetics. Part A. - : John Wiley & Sons. - 1552-4825 .- 1552-4833. ; 173:5, s. 1396-1399
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Exome sequencing
- IFIH1
- Singleton-Merten syndrome
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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