Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity

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.

Bergendal, BirgittaKarolinska Institutet,Jönköping University,Hälsohögskolan,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden (författare)
Norderyd, JohannaJönköping University,HHJ. CHILD,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden(Swepub:hj)gtoino (författare)
Nilsson, DanielKarolinska Institutet (författare)
Anderlid, Britt-MarieDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden (författare)
Nordgren, AnnKarolinska Institutet (författare)
Lindstrand, AnnaKarolinska Institutet (författare)
Karolinska InstitutetHälsohögskolan (creator_code:org_t)

Ingår i:American Journal of Medical Genetics. Part A: John Wiley & Sons173:5, s. 1396-13991552-48251552-4833

Av författaren/redakt...: Pettersson, Mari ...; Bergendal, Birgi ...; Norderyd, Johann ...; Nilsson, Daniel; Anderlid, Britt- ...; Nordgren, Ann; visa fler...; Lindstrand, Anna; visa färre...

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Medicinska och f ...; och Medicinsk geneti ...

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.