气候变化领域集成服务门户(CCPortal): SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

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DOI	10.1038/ng.3743
	SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
	Shaw, Natalie D.1,2,3; Brand, Harrison 1,2,4,5,6,7,8; Kupchinsky, Zachary A.9; Bengani, Hemant 10; Plummer, Lacey 1,2; Jones, Takako I.11; Erdin, Serkan 4,5,8; Williamson, Kathleen A.10; Rainger, Joe 10; Stortchevoi, Alexei 4,5; Samocha, Kaitlin 7,8,12; Curra, Benjamin B.4,5; Dunican, Donncha S.10; Collins, Ryan L.4,5,13; Willer, Jason R.9; Lek, Angela 14; Lek, Monkol 7,8,12; Nassan, Malik 15; Pereira, Shahrin 16; Kammin, Tammy 16; Lucente, Diane 4,5; Silva, Alexandra 4,5; Seabra, Catarina M.4,5,17; Chiang, Colby 4,5; Ana, Yu 4,5; Ansari, Morad 10; Rainger, Jacqueline K.10; Joss, Shelagh 18; Smith, Jill Clayton 19; Lippincott, Margaret F.1,2; Singh, Sylvia S.1,2; Patel, Nirav 1,2; Jing, Jenny W.1,2; Law, Jennifer R.20; Ferraro, Nalton 21; Verloes, Main 22; Rauch, Anita 23,24; Steindl, Katharina 23,24; Zweier, Markus 23,24; Scheer, Ianina 25; Sato, Daisuke 26; Okamoto, Nobuhiko 27,28; Jacobsen, Christina 7,29; Tryggestad, Jeanie 30; Chernausek, Steven ; Schimmenti, Lisa A.31,32; Brasseur, Benjamin 33; Cesaretti, Claudia 34; Garcia-Ortiz, Jose E.35; Pineda Buitrago, Tatiana 36; Perez Silva, Orlando 37; Hoffman, Jodi D.38,39; Muehlbauer, Wolfgang 40; Ruprecht, Klaus W.41; Loeys, Bart L.42,43; Shino, Masato 44; Kaind, Angela M.45,46; Cho, Chie-Hee 47; Morton, Cynthia C.8,16; Meehan, Richard R.10; van Heyningen, Veronica 10; Liao, Eric C.7,48,49,50; Balasubramanian, Ravikumar 1,2; Hall, Janet E.1,2,3; Seminara, Stephanie B.1,2; Macarthur, Daniel 8,12,51; Moore, Steven A.52; Yoshiura, Koh-ichiro 53; Gusella, James F.5,6,8,14; Marsh, Joseph A.10; Graham, John M., Jr.54; Lin, Angela E.7,55; Katsanis, Nicholas 9; Jones, Peter L.11; Crowley, William F., Jr.1,2; Davis, Erica E.9; FitzPatrick, David R.10; Talkowski, Michael E.4,5,6,7,8,51
发表日期	2017-02-01
ISSN	1061-4036
卷号	49 期号:2 页码:238-248
英文摘要	Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders. CRISPR/Cas9-mediated alteration of smchd1 in zebrafish yielded arhinia-relevant phenotypes. Transcriptome and protein analyses in arhinia probands and controls showed no differences in SMCHD1 mRNA or protein abundance but revealed regulatory changes in genes and pathways associated with craniofacial patterning. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which we speculate to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes.
语种	英语
WOS记录号	WOS:000393148600012
来源期刊	NATURE GENETICS
来源机构	美国环保署
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/62116
作者单位	1.Massachusetts Gen Hosp, Dept Med, Reprod Endocrine Unit, Harvard Reprod Endocrine Sci Ctr, Boston, MA 02114 USA; 2.Massachusetts Gen Hosp, Dept Med, Reprod Endocrine Unit, NICHD Ctr Excellence Translat Res Fertil & Infert, Boston, MA 02114 USA; 3.Natl Inst Environm Hlth Sci, Res Triangle Pk, NC USA; 4.Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Boston, MA 02114 USA; 5.Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA; 6.Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA; 7.Harvard Med Sch, Boston, MA 02115 USA; 8.Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA; 9.Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27708 USA; 10.Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland; 11.Univ Massachusetts Med Sch, Dept Cell & Dev Biol, Worcester, MA 01655 USA; 12.Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA; 13.Harvard Med Sch, Div Med Sci, Program Bioinformat & Integrat Genom, Boston, MA 02115 USA; 14.Harvard Med Sch, Dept Genet, Boston, MA 02115 USA; 15.Mayo Clin, Dept Psychiat & Psychol, Rochester, MN 55905 USA; 16.Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, 75 Francis St, Boston, MA 02115 USA; 17.Univ Porto, GABBA Program, Oporto, Portugal; 18.South Glasgow Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland; 19.Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Fac Med & Human Sci,Inst Human Dev, Manchester, Lancs, England; 20.Univ N Carolina, Div Pediat Endocrinol, Chapel Hill, NC 27514 USA; 21.Boston Childrens Hosp, Dept Oral & Maxillofacial Surg, Boston, MA USA; 22.Robert Debre Hosp, Dept Genet, Paris, France; 23.Univ Zurich, Clin Res Prior Program Rare Dis, Inst Med Genet, Schlieren, Switzerland; 24.Univ Zurich, Clin Res Prior Program Rare Dis, Radiz Rare Dis Initiat Zurich, Schlieren, Switzerland; 25.Childrens Hosp, Dept Diagnost Imaging, Zurich, Switzerland; 26.Hokkaido Univ, Grad Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan; 27.Osaka Med Ctr, Dept Med Genet, Osaka, Japan; 28.Res Inst Maternal & Child Hlth, Osaka, Japan; 29.Boston Childrens Hosp, Div Endocrinol & Genet, Boston, MA 02115 USA; 30.Univ Oklahoma, Hlth Sci Ctr, Dept Pediat, Oklahoma City, OK 73190 USA; 31.Mayo Clin, Dept Otorhinolaryngol, Rochester, MN 55905 USA; 32.Mayo Clin, Dep Clin Genom, Rochester, MN 55905 USA; 33.Univ Miami, Leonard M Miller Sch Med, DeWitt Daughtry Family Dept Surg, Miami, FL 33146 USA; 34.Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, Milan, Italy; 35.Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Mexico; 36.San Jose State Univ, Fdn Hosp Infantil, Bogota, Colombia; 37.Acad Nacl Med Colombia, Bogota, Colombia; 38.Tufts Med Ctr, Div Genet, Boston, MA 02111 USA; 39.Tufts Med Ctr, Div Maternal Fetal Med, Boston, MA 02111 USA; 40.ATOS Klin, Dept Plast & Aesthet Surg, Munich, Germany; 41.Univ Hosp Saarland, Dept Ophthalmol, Homburg, Germany; 42.Univ Antwerp, Ctr Med Genet, Antwerp, Belgium; 43.Univ Antwerp Hosp, Antwerp, Belgium; 44.Gunma Univ, Grad Sch Med, Dept Otolaryngol Head & Neck Surg, Gunma, Japan; 45.Charite, Biol & Neurobiol, Berlin, Germany; 46.Berlin Inst Hlth, Berlin, Germany; 47.Univ Hosp Bern, Inselspital, Dept Diagnost Intervent & Pediat Radiol, Bern, Switzerland; 48.Massachusetts Gen Hosp, Ctr Regenerat Med, Boston, MA 02114 USA; 49.Massachusetts Gen Hosp, Div Plast & Reconstruct Surg, Boston, MA 02114 USA; 50.Harvard Stem Cell Inst, Cambridge, MA 02138 USA; 51.Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA; 52.Univ Iowa, Carver Coll Med, Dept Pathol, Iowa City, IA 52242 USA; 53.Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki, Japan; 54.Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA; 55.MassGeneral Hosp Children, Med Genet, Boston, MA 02114 USA
推荐引用方式 GB/T 7714	Shaw, Natalie D.,Brand, Harrison,Kupchinsky, Zachary A.,et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome[J]. 美国环保署,2017,49(2):238-248.
APA	Shaw, Natalie D..,Brand, Harrison.,Kupchinsky, Zachary A..,Bengani, Hemant.,Plummer, Lacey.,...&Talkowski, Michael E..(2017).SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.NATURE GENETICS,49(2),238-248.
MLA	Shaw, Natalie D.,et al."SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome".NATURE GENETICS 49.2(2017):238-248.