DDX58 and Classic Singleton-Merten Syndrome

被引：43

作者：

Ferreira, Carlos R. ^{[1
]}

Crow, Yanick J. ^{[2
,3
]}

Gahl, William A. ^{[4
,5
]}

Gardner, Pamela J. ^{[6
]}

Goldbach-Mansky, Raphaela ^{[7
]}

Hur, Sun ^{[8
]}

de Jesus, Adriana Almeida ^{[7
]}

Nehrebecky, Michele ^{[1
]}

Park, Ji Woo ^{[9
]}

Briggs, Tracy A. ^{[10
,11
]}

机构：

[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Univ Edinburgh, Ctr Genom & Expt Med, Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland

[3] Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Lab Neurogenet & Neuroinflammat, Paris, France

[4] NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA

[5] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[6] Natl Inst Dent & Craniofacial Res, Off Clin Director, NIH, Bethesda, MD USA

[7] NIAID, TADS, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[8] Harvard Med Sch, Biol Chem & Mol Pharmacol, Boston, MA USA

[9] Boston Coll, Dept Biol, Morrissey Coll Arts & Sci, Chestnut Hill, MA 02167 USA

[10] Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England

[11] Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2019年 / 39卷 / 01期

基金：

欧洲研究理事会; 美国国家卫生研究院;

关键词：

Interferonopathy; retinoic acid-inducible gene I; Singleton-Merten syndrome; type I interferon; OF-FUNCTION MUTATION; AICARDI-GOUTIERES; STRUCTURAL BASIS; RNA RECOGNITION; DISEASE; ACTIVATION;

D O I：

10.1007/s10875-018-0572-1

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

PurposeSingleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, classic Singleton-Merten syndrome.MethodsWe undertook clinical phenotyping, next-generation sequencing, and functional studies of type I interferon production in patient whole blood and assessedthe type I interferon promoter activity in HEK293 cells transfected with wild-type or mutant DDX58 stimulated with Poly I:C.ResultsWe demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon.ConclusionsDDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela.

引用

页码：75 / 80

页数：6

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