Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
作者： Michael A Simpson , Melita D Irving , Esra Asilmaz , Mary J Gray , Dimitra Dafou
DOI: 10.1038/NG.779
关键词: Allele 、 Hajdu–Cheney syndrome 、 Osteopenia 、 Mutation 、 Base sequence 、 Biology 、 Exon 、 Internal medicine 、 Notch signaling pathway 、 Endocrinology
摘要: We used an exome-sequencing strategy and identified allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, autosomal dominant multisystem disorder characterized by severe progressive bone loss. The syndrome are predicted to lead the premature truncation with either disruption or loss C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, absence which has previously been shown increase Notch signaling.
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Allison M. Brennan, Richard M. Pauli, Hajdu‐Cheney syndrome: Evolution of phenotype and clinical problems American Journal of Medical Genetics. ,vol. 100, pp. 292- 310 ,(2001) , 10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4
Annie WC Kung, Su-Mei Xiao, Stacey Cherny, Gloria HY Li, Yi Gao, Gloria Tso, Kam S Lau, Keith DK Luk, Jian-min Liu, Bin Cui, Min-Jia Zhang, Zhen-lin Zhang, Jin-wei He, Hua Yue, Wia-bo Xia, Lian-mei Luo, Shu-li He, Douglas P Kiel, David Karasik, Yi-Hsiang Hsu, L Adrienne Cupples, Serkalem Demissie, Unnur Styrkarsdottir, Bjarni V Halldorsson, Gunnar Sigurdsson, Unnur Thorsteinsdottir, Kari Stefansson, J Brent Richards, Guangju Zhai, Nicole Soranzo, Ana Valdes, Tim D Spector, Pak C Sham, None, Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies American Journal of Human Genetics. ,vol. 86, pp. 229- 239 ,(2010) , 10.1016/J.AJHG.2009.12.014
Raphael Kopan, Ma. Xenia G. Ilagan, The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism Cell. ,vol. 137, pp. 216- 233 ,(2009) , 10.1016/J.CELL.2009.03.045
Andrew P Weng, Adolfo A Ferrando, Woojoong Lee, John P Morris IV, Lewis B Silverman, Cheryll Sanchez-Irizarry, Stephen C Blacklow, A Thomas Look, Jon C Aster, Activating Mutations of NOTCH1 in Human T Cell Acute Lymphoblastic Leukemia Science. ,vol. 306, pp. 269- 271 ,(2004) , 10.1126/SCIENCE.1102160
Stefano Zanotti, Ernesto Canalis, Notch and the Skeleton Molecular and Cellular Biology. ,vol. 30, pp. 886- 896 ,(2010) , 10.1128/MCB.01285-09
Ryan McDaniell, Daniel M. Warthen, Pedro A. Sanchez-Lara, Athma Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner, NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway American Journal of Human Genetics. ,vol. 79, pp. 169- 173 ,(2006) , 10.1086/505332
Martin Rechsteiner, Scott W. Rogers, PEST sequences and regulation by proteolysis Trends in Biochemical Sciences. ,vol. 21, pp. 267- 271 ,(1996) , 10.1016/S0968-0004(96)10031-1
Lilian M.J. Albano, D??bora R. Bertola, M??rio F. Barba, Marcelo Valente, Stephen P. Robertson, Chong A. Kim, Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients Clinical Dysmorphology. ,vol. 16, pp. 27- 33 ,(2007) , 10.1097/01.MCD.0000228418.74413.52
Stuart H. Ralston, André G. Uitterlinden, Genetics of Osteoporosis Endocrine Reviews. ,vol. 31, pp. 629- 662 ,(2010) , 10.1210/ER.2009-0044
Jennifer JD Morrissette, Raymond P Colliton, Nancy B Spinner, Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Human Molecular Genetics. ,vol. 10, pp. 405- 413 ,(2001) , 10.1093/HMG/10.4.405