Mutations in DDX58, which encodes RIG-I, Cause atypical singleton-merten syndrome

American Journal of Human Genetics

Volumn 96, Issue 2, 2015, Pages 266-274

  Jang, Mi Ae ^a   Kim, Eun Kyoung ^a   Now, Hesung ^b   Nguyen, Nhung T H ^b   Kim, Woo Jong ^b   Yoo, Joo Yeon ^b   Lee, Jinhyuk ^c,d   Jeong, Yun Mi ^e   Kim, Cheol Hee ^e   Kim, Ok Hwa ^f   Sohn, Seongsoo ^a   Nam, Seong Hyeuk ^g   Hong, Yoojin ^g   Lee, Yong Seok ^g   Chang, Sung A ^a   Jang, Shin Yi ^a   Kim, Jong Won ^a   Lee, Myung Shik ^a   Lim, So Young ^a   Sung, Ki Sun ^a   Park, Ki Tae ^a   Kim, Byoung Joon ^a   Lee, Joo Heung ^a   Kim, Duk Kyung ^a   Kee, Changwon ^a   Ki, Chang Seok ^a   more..

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Pohang University of Science and Technology (POSTECH)   (South Korea)

^c Korea Research Institute of Bioscience and Biotechnology (KRIBB)   (South Korea)

^d University of Science and Technology (UST)   (South Korea)

^e Chungnam National University   (South Korea)

^f Woorisoa Children s Hospital   (South Korea)

^g Samsung SDS   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERFERON; RETINOIC ACID INDUCIBLE PROTEIN I; DDX58 PROTEIN, HUMAN; DEAD BOX PROTEIN;

ACROOSTEOLYSIS; ADOLESCENT; ADULT; ARTERY CALCIFICATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD VESSEL CALCIFICATION; CELL COUNT; CELL VIABILITY; CHILD; CLINICAL ARTICLE; CONFORMATIONAL TRANSITION; CONGENITAL GLAUCOMA; CONTROLLED STUDY; CYTOPATHOGENIC EFFECT; CYTOTOXICITY; DERMATITIS; DRY SKIN; EXOME; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GLAUCOMA; HAND RADIOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOHISTOCHEMISTRY; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; MITRAL VALVE REPAIR; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; PSORIASIS; SCHOOL CHILD; SHORT STATURE; SINGLETON MERTEN SYNDROME; SKELETON MALFORMATION; SKIN BIOPSY; TENDINITIS; TOOTH MALFORMATION; TRABECULAR MESHWORK; YOUNG ADULT; ABNORMALITIES; AORTA DISEASE; CASE REPORT; CELL CULTURE; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; DOMINANT GENE; ENAMEL HYPOPLASIA; GENETICS; METACARPAL BONE; MOLECULAR GENETICS; MUSCLE DISEASE; MUSCULOSKELETAL SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RADIOGRAPHY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AORTIC DISEASES; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; DEAD-BOX RNA HELICASES; DENTAL ENAMEL HYPOPLASIA; EXOME; FEMALE; GENES, DOMINANT; GLAUCOMA; HUMANS; MALE; METACARPUS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; ODONTODYSPLASIA; OSTEOPOROSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; VASCULAR CALCIFICATION;

EID: 84925137606     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.11.019     Document Type: Article

References (23)

1. E.B. Singleton, and D.F. Merten An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition Pediatr. Radiol. 1 1973 2 7
2. A. Feigenbaum, C. Müller, C. Yale, J. Kleinheinz, P. Jezewski, H.G. Kehl, M. MacDougall, F. Rutsch, and R.C. Hennekam Singleton-Merten syndrome: an autosomal dominant disorder with variable expression Am. J. Med. Genet. A. 161A 2013 360 370
3. B.B. Gay Jr., and J.P. Kuhn A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome) Radiology 118 1976 389 395
4. I. Valverde, E. Rosenthal, A. Tzifa, P. Desai, A. Bell, K. Pushparajah, S. Qureshi, P. Beerbaum, and J. Simpson Singleton-merten syndrome and impaired cardiac function J. Am. Coll. Cardiol. 56 2010 1760
5. F. Liu, and J. Gu Retinoic acid inducible gene-I, more than a virus sensor Protein Cell 2 2011 351 357
6. M. Yoneyama, M. Kikuchi, T. Natsukawa, N. Shinobu, T. Imaizumi, M. Miyagishi, K. Taira, S. Akira, and T. Fujita The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses Nat. Immunol. 5 2004 730 737
7. E. Kowalinski, T. Lunardi, A.A. McCarthy, J. Louber, J. Brunel, B. Grigorov, D. Gerlier, and S. Cusack Structural basis for the activation of innate immune pattern-recognition receptor RIG-I by viral RNA Cell 147 2011 423 435
8. A. Kohlway, D. Luo, D.C. Rawling, S.C. Ding, and A.M. Pyle Defining the functional determinants for RNA surveillance by RIG-I EMBO Rep. 14 2013 772 779
9. B.R. Brooks, C.L. Brooks 3rd, A.D. Mackerell Jr., L. Nilsson, R.J. Petrella, B. Roux, Y. Won, G. Archontis, C. Bartels, and S. Boresch CHARMM: the biomolecular simulation program J. Comput. Chem. 30 2009 1545 1614
10. W. Im, M.S. Lee, and C.L. Brooks 3rd Generalized born model with a simple smoothing function J. Comput. Chem. 24 2003 1691 1702
11. H.J. Kim, W. Suh, S.C. Park, C.Y. Kim, K.H. Park, M.S. Kook, Y.Y. Kim, C.S. Kim, C.K. Park, C.S. Ki, and C. Kee Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma Mol. Vis. 17 2011 2093 2101
12. T. Shigemoto, M. Kageyama, R. Hirai, J. Zheng, M. Yoneyama, and T. Fujita Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes J. Biol. Chem. 284 2009 13348 13354
13. S.Y. Hwang, H.Y. Sun, K.H. Lee, B.H. Oh, Y.J. Cha, B.H. Kim, and J.Y. Yoo 5′-Triphosphate-RNA-independent activation of RIG-I via RNA aptamer with enhanced antiviral activity Nucleic Acids Res. 40 2012 2724 2733
14. E.M. Stone, J.H. Fingert, W.L. Alward, T.D. Nguyen, J.R. Polansky, S.L. Sunden, D. Nishimura, A.F. Clark, A. Nystuen, and B.E. Nichols Identification of a gene that causes primary open angle glaucoma Science 275 1997 668 670
15. W.L. Alward, J.H. Fingert, M.A. Coote, A.T. Johnson, S.F. Lerner, D. Junqua, F.J. Durcan, P.J. McCartney, D.A. Mackey, V.C. Sheffield, and E.M. Stone Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N. Engl. J. Med. 338 1998 1022 1027
16. M.K. Joe, S. Sohn, W. Hur, Y. Moon, Y.R. Choi, and C. Kee Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells Biochem. Biophys. Res. Commun. 312 2003 592 600
17. J. Alvarado, C. Murphy, and R. Juster Trabecular meshwork cellularity in primary open-angle glaucoma and nonglaucomatous normals Ophthalmology 91 1984 564 579
18. A.A. Minin, and M.V. Moldaver Intermediate vimentin filaments and their role in intracellular organelle distribution Biochemistry Mosc. 73 2008 1453 1466
19. M. Funabiki, H. Kato, Y. Miyachi, H. Toki, H. Motegi, M. Inoue, O. Minowa, A. Yoshida, K. Deguchi, and H. Sato Autoimmune disorders associated with gain of function of the intracellular sensor MDA5 Immunity 40 2014 199 212
20. G.I. Rice, Y. del Toro Duany, E.M. Jenkinson, G.M. Forte, B.H. Anderson, G. Ariaudo, B. Bader-Meunier, E.M. Baildam, R. Battini, and M.W. Beresford Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Nat. Genet. 46 2014 503 509
21. S.E. New, and E. Aikawa Molecular imaging insights into early inflammatory stages of arterial and aortic valve calcification Circ. Res. 108 2011 1381 1391
22. J.S. Shao, S.L. Cheng, J. Sadhu, and D.A. Towler Inflammation and the osteogenic regulation of vascular calcification: a review and perspective Hypertension 55 2010 579 592
23. Z. Al-Aly, J.S. Shao, C.F. Lai, E. Huang, J. Cai, A. Behrmann, S.L. Cheng, and D.A. Towler Aortic Msx2-Wnt calcification cascade is regulated by TNF-alpha-dependent signals in diabetic Ldlr-/- mice Arterioscler. Thromb. Vasc. Biol. 27 2007 2589 2596