{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:58:44Z","timestamp":1789707524715,"version":"4.0.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T00:00:00Z","timestamp":1556150400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31760308"],"award-info":[{"award-number":["31760308"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31760308"],"award-info":[{"award-number":["31760308"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81860173"],"award-info":[{"award-number":["81860173"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81860173"],"award-info":[{"award-number":["81860173"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81860173"],"award-info":[{"award-number":["81860173"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1038\/s10038-019-0608-2","type":"journal-article","created":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T02:05:47Z","timestamp":1556157947000},"page":"681-687","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill\u2013Marchesani syndrome from a Chinese family"],"prefix":"10.1038","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9082-0034","authenticated-orcid":false,"given":"Haoan","family":"Yi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Zha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuechun","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouzhi","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanbo","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojiu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongshu","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,4,25]]},"reference":[{"key":"608_CR1","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1086\/425231","volume":"75","author":"N Dagoneau","year":"2004","unstructured":"Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, et al. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004;75:801\u20136.","journal-title":"Am J Hum Genet"},{"key":"608_CR2","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1136\/jmg.40.1.34","volume":"40","author":"L Faivre","year":"2003","unstructured":"Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003;40:34\u20136.","journal-title":"J Med Genet"},{"key":"608_CR3","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.matbio.2018.09.004","volume":"77","author":"Lauren W. Wang","year":"2019","unstructured":"Wang LW, Kutz WE, Mead TJ, Beene LC, Singh S, Jenkins MW, et al. Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage. Matrix Biol. 2019;77:117\u2013128","journal-title":"Matrix Biology"},{"key":"608_CR4","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1016\/j.ajhg.2009.09.011","volume":"85","author":"J Morales","year":"2009","unstructured":"Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, et al. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet. 2009;85:558\u201368.","journal-title":"Am J Hum Genet"},{"key":"608_CR5","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1002\/humu.22105","volume":"33","author":"R Haji-Seyed-Javadi","year":"2012","unstructured":"Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, et al. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012;33:1182\u20137.","journal-title":"Hum Mutat"},{"key":"608_CR6","doi-asserted-by":"publisher","first-page":"6932","DOI":"10.1128\/MCB.15.12.6932","volume":"15","author":"MA Gibson","year":"1995","unstructured":"Gibson MA, Hatzinikolas G, Davis EC, Baker E, Sutherland GR, Mecham RP. Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Mol Cell Biol. 1995;15:6932\u201342.","journal-title":"Mol Cell Biol"},{"key":"608_CR7","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.matbio.2006.12.006","volume":"26","author":"R Hirani","year":"2007","unstructured":"Hirani R, Hanssen E, Gibson MA. LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. Matrix biology: journal of the International Society for. Matrix Biol. 2007;26:213\u201323.","journal-title":"Matrix Biol"},{"key":"608_CR8","doi-asserted-by":"publisher","first-page":"R163","DOI":"10.1093\/hmg\/ddr361","volume":"20","author":"C Goff Le","year":"2011","unstructured":"Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet. 2011;20:R163\u20137.","journal-title":"Hum Mol Genet"},{"key":"608_CR9","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1002\/ajmg.a.20289","volume":"123a","author":"L Faivre","year":"2003","unstructured":"Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, et al. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet Part A. 2003;123a:204\u20137.","journal-title":"Am J Med Genet Part A"},{"key":"608_CR10","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1056\/NEJMe1905778","volume":"380","author":"DR Adams","year":"2019","unstructured":"Adams DR, Eng CM. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. New Engl J Med. 2019;380:201.","journal-title":"New Engl J Med"},{"key":"608_CR11","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic acids Res. 2010;38:e164.","journal-title":"Nucleic acids Res"},{"key":"608_CR12","doi-asserted-by":"crossref","unstructured":"Nayak B, Sinha G, Patil B, Khokhar S. Golden ring in the eyes: Weill-Marchesani syndrome. BMJ case reports. 2015;2015.","DOI":"10.1136\/bcr-2015-210547"},{"key":"608_CR13","doi-asserted-by":"publisher","first-page":"1600","DOI":"10.1182\/blood-2017-12-819870","volume":"131","author":"Y Liu","year":"2018","unstructured":"Liu Y, Jing F, Yi W, Mendelson A, Shi P, Walsh R, et al. HO-1(hi) patrolling monocytes protect against vaso-occlusion in sickle cell disease. Blood. 2018;131:1600\u201310.","journal-title":"Blood"},{"key":"608_CR14","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1042\/BJ20040424","volume":"386","author":"S Porter","year":"2005","unstructured":"Porter S, Clark IM, Kevorkian L, Edwards DR. The ADAMTS metalloproteinases. Biochem J. 2005;386:15\u201327.","journal-title":"Biochem J"},{"key":"608_CR15","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.matbio.2015.03.001","volume":"44-46","author":"J Dubail","year":"2015","unstructured":"Dubail J, Apte SS. Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics. Matrix biology: journal of the International Society for. Matrix Biol. 2015;44-46:24\u201337.","journal-title":"Matrix Biol"},{"key":"608_CR16","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1038\/nature09410","volume":"467","author":"H Lango Allen","year":"2010","unstructured":"Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010;467:832\u20138.","journal-title":"Nature"},{"key":"608_CR17","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1038\/ejhg.2013.203","volume":"22","author":"HA Duyvenvoorde van","year":"2014","unstructured":"van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, et al. Copy number variants in patients with short stature. Eur J Hum Genet. 2014;22:602\u20139.","journal-title":"Eur J Hum Genet"},{"key":"608_CR18","doi-asserted-by":"publisher","first-page":"17156","DOI":"10.1074\/jbc.M111.231571","volume":"286","author":"WE Kutz","year":"2011","unstructured":"Kutz WE, Wang LW, Bader HL, Majors AK, Iwata K, Traboulsi EI, et al. ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J Biol Chem. 2011;286:17156\u201367.","journal-title":"J Biol Chem"},{"key":"608_CR19","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1111\/j.1463-5224.2011.00892.x","volume":"14","author":"D Gould","year":"2011","unstructured":"Gould D, Pettitt L, McLaughlin B, Holmes N, Forman O, Thomas A, et al. ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Vet Ophthalmol. 2011;14:378\u201384.","journal-title":"Vet Ophthalmol"},{"key":"608_CR20","doi-asserted-by":"publisher","first-page":"e0143546","DOI":"10.1371\/journal.pone.0143546","volume":"10","author":"OP Forman","year":"2015","unstructured":"Forman OP, Pettitt L, Komaromy AM, Bedford P, Mellersh C. A Novel genome-wide association study approach using genotyping by exome sequencing leads to the identification of a primary open angle glaucoma associated inversion disrupting ADAMTS17. PLoS ONE. 2015;10:e0143546.","journal-title":"PLoS One"},{"key":"608_CR21","doi-asserted-by":"publisher","first-page":"e0140436","DOI":"10.1371\/journal.pone.0140436","volume":"10","author":"JA Oliver","year":"2015","unstructured":"Oliver JA, Forman OP, Pettitt L, Mellersh CS. Two independent mutations in ADAMTS17 are associated with primary open angle glaucoma in the basset hound and basset fauve de bretagne breeds of dog. PLoS ONE. 2015;10:e0140436.","journal-title":"PLoS One"},{"key":"608_CR22","first-page":"790","volume":"20","author":"MH Shah","year":"2014","unstructured":"Shah MH, Bhat V, Shetty JS, Kumar A. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Mol vision. 2014;20:790\u20136.","journal-title":"Mol vision"},{"key":"608_CR23","doi-asserted-by":"publisher","first-page":"235","DOI":"10.3109\/13816810.2012.666708","volume":"33","author":"AO Khan","year":"2012","unstructured":"Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet. 2012;33:235\u20139.","journal-title":"Ophthalmic Genet"},{"key":"608_CR24","doi-asserted-by":"publisher","first-page":"e1003536","DOI":"10.1371\/journal.pgen.1003536","volume":"9","author":"FP Radner","year":"2013","unstructured":"Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, et al. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet. 2013;9:e1003536.","journal-title":"PLoS Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0608-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0608-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0608-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:07:25Z","timestamp":1684616845000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-019-0608-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,25]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["608"],"URL":"https:\/\/doi.org\/10.1038\/s10038-019-0608-2","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,25]]},"assertion":[{"value":"8 December 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The current study was approved by the Institutional Review Boards of Kunming Medical University. Written informed consent was obtained from all investigated individuals prior to the study. Before enrollment, the patients or their guardians gave informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Editorial policies and ethical consideration"}}]}}