A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

American Journal of Human Genetics

Volumn 97, Issue 3, 2015, Pages 465-474

  Johnston, Jennifer J ^a   Sanchez Contreras, Monica Y ^b   Keppler Noreuil, Kim M ^a   Sapp, Julie ^a   Crenshaw, Molly ^a   Finch, NiCole A ^b   Cormier Daire, Valerie ^c   Rademakers, Rosa ^b   Sybert, Virginia P ^d,e   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c INSERM   (France)

^d UNIVERSITY OF WASHINGTON   (United States)

^e CENTER FOR HEALTH STUDIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; COMPLEMENTARY DNA; PHOSPHOLIPASE C GAMMA; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR; STAT3 PROTEIN; VALINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT PENTTINEN SYNDROME; CASE REPORT; CHILD; EXOME; FACE DYSMORPHIA; FAHR DISEASE; FEMALE; GAIN OF FUNCTION MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HELA CELL LINE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MYOFIBROSIS; PDGFRB GENE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOSIS; RECEPTOR GENE; SCHOOL CHILD; SIGNAL TRANSDUCTION; ACROOSTEOLYSIS; DOMINANT GENE; GENETICS; LIMB MALFORMATION; METABOLISM; MISSENSE MUTATION; PATHOLOGY; PHOSPHORYLATION; PROGERIA; TIME;

ACRO-OSTEOLYSIS; DNA, COMPLEMENTARY; FEMALE; GENES, DOMINANT; HELA CELLS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION, MISSENSE; PHOSPHORYLATION; POINT MUTATION; PROGERIA; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; TIME FACTORS;

EID: 84941023547     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.07.009     Document Type: Article

References (18)

1. M. Penttinen, K.M. Niemi, H. Vinkka-Puhakka, R. Johansson, and P. Aula New progeroid disorder Am. J. Med. Genet. 69 1997 182 187
2. F. Zufferey, S. Hadj-Rabia, A. De Sandre-Giovannoli, J.L. Dufier, B. Leheup, C. Schweitze, C. Bodemer, V. Cormier-Daire, and M. Le Merrer Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type Am. J. Med. Genet. A. 161A 2013 1786 1791
3. J.K. Teer, L.L. Bonnycastle, P.S. Chines, N.F. Hansen, N. Aoyama, A.J. Swift, H.O. Abaan, T.J. Albert, E.H. Margulies, E.D. Green, et al. NISC Comparative Sequencing Program Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing Genome Res. 20 2010 1420 1431
4. J.K. Teer, E.D. Green, J.C. Mullikin, and L.G. Biesecker VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer Bioinformatics 28 2012 599 600
5. D.G. MacArthur, T.A. Manolio, D.P. Dimmock, H.L. Rehm, J. Shendure, G.R. Abecasis, D.R. Adams, R.B. Altman, S.E. Antonarakis, E.A. Ashley, and et al. Guidelines for investigating causality of sequence variants in human disease Nature 508 2014 469 476
6. A.S. Allen, S.F. Berkovic, P. Cossette, N. Delanty, D. Dlugos, E.E. Eichler, M.P. Epstein, T. Glauser, D.B. Goldstein, Y. Han, et al. Epi4K Consortium Epilepsy Phenome/Genome Project De novo mutations in epileptic encephalopathies Nature 501 2013 217 221
7. M. Sanchez-Contreras, M.C. Baker, N.A. Finch, A. Nicholson, A. Wojtas, Z.K. Wszolek, O.A. Ross, D.W. Dickson, and R. Rademakers Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology Hum. Mutat. 35 2014 964 971
8. M.T. Keating, and L.T. Williams Processing of the platelet-derived growth factor receptor. Biosynthetic and degradation studies using anti-receptor antibodies J. Biol. Chem. 262 1987 7932 7937
9. J.B. Demoulin, and A. Essaghir PDGF receptor signaling networks in normal and cancer cells Cytokine Growth Factor Rev. 25 2014 273 283
10. F.A. Arts, A.I. Velghe, M. Stevens, J.C. Renauld, A. Essaghir, and J.B. Demoulin Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling J. Cell. Mol. Med. 19 2015 239 248
11. T. Iwayama, and L.E. Olson Involvement of PDGF in fibrosis and scleroderma: recent insights from animal models and potential therapeutic opportunities Curr. Rheumatol. Rep. 15 2013 304
12. S. Barrientos, O. Stojadinovic, M.S. Golinko, H. Brem, and M. Tomic-Canic Growth factors and cytokines in wound healing Wound Repair Regen. 16 2008 585 601
13. T. Hayashi, A. Legati, T. Nishikawa, and G. Coppola First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study Psychiatry Clin. Neurosci. 69 2015 77 83
14. G. Nicolas, C. Pottier, C. Charbonnier, L. Guyant-Maréchal, I. Le Ber, J. Pariente, P. Labauge, X. Ayrignac, L. Defebvre, D. Maltête, et al. French IBGC Study Group Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification Brain 136 2013 3395 3407
15. J.A. Martignetti, L. Tian, D. Li, M.C. Ramirez, O. Camacho-Vanegas, S.C. Camacho, Y. Guo, D.J. Zand, A.M. Bernstein, S.K. Masur, and et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis Am. J. Hum. Genet. 92 2013 1001 1007
16. Y.H. Cheung, T. Gayden, P.M. Campeau, C.A. LeDuc, D. Russo, V.H. Nguyen, J. Guo, M. Qi, Y. Guan, S. Albrecht, and et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis Am. J. Hum. Genet. 92 2013 996 1000
17. T. Takenouchi, Y. Yamaguchi, A. Tanikawa, R. Kosaki, H. Okano, and K. Kosaki Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation J. Pediatr. 166 2015 483 486
18. C.P. Lim, T.T. Phan, I.J. Lim, and X. Cao Stat3 contributes to keloid pathogenesis via promoting collagen production, cell proliferation and migration Oncogene 25 2006 5416 5425