{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:36:33Z","timestamp":1747182993364,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T00:00:00Z","timestamp":1576627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008871","name":"Yunnan Provincial Science and Technology Department","doi-asserted-by":"publisher","award":["2016RA093"],"award-info":[{"award-number":["2016RA093"]}],"id":[{"id":"10.13039\/501100008871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31360270"],"award-info":[{"award-number":["31360270"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a rare heritable disease with systemic connective tissue disorder. Most of the patients represent autosomal dominant form of OI, and are usually resulting from the mutations in type I collagen genes. However, the gene mutations reported previously only account for \u223c70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the whole genome sequencing and molecular genetic analysis. The mutation of rs66612022 (<jats:italic>COL1A2<\/jats:italic>:p.Gly328Ser) related to glycine substitution was found in the seven patients. Moreover, we identified a novel missense mutation (<jats:italic>HMMR<\/jats:italic>:p.Glu2Gln). Interestingly, the individuals of this family with both the mutations were suffering from OI, while the others carried one or none of them are normal. The mutations of <jats:italic>COL1A2<\/jats:italic> and <jats:italic>HMMR<\/jats:italic> and their combined effect on OI would further expand the genetic spectrum of OI.<\/jats:p>","DOI":"10.1111\/ahg.12371","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T07:45:22Z","timestamp":1576741522000},"page":"339-344","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing"],"prefix":"10.1111","volume":"84","author":[{"given":"Yanjiao","family":"Li","sequence":"first","affiliation":[{"name":"Yunnan Key laboratory for Basic Research on Bone and Joint Diseases &amp;Yunnan Stem Cell Translational Research Center Kunming University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongsuo","family":"Liang","sequence":"additional","affiliation":[{"name":"Joint Surgery Department of the Second People's Hospital of Nanning City  Nanning Guangxi Zhuang Autonomous Region China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dekai","family":"Yuan","sequence":"additional","affiliation":[{"name":"Kunming University School of Medicine Kunming University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baoling","family":"Liu","sequence":"additional","affiliation":[{"name":"First Affiliated Hospital of Kunming Medical University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Liu","sequence":"additional","affiliation":[{"name":"Kunming Children's Hospital  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongfa","family":"Zhang","sequence":"additional","affiliation":[{"name":"The first people's Hospital of Yunnan Province  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaiyu","family":"Hou","sequence":"additional","affiliation":[{"name":"The second people's Hospital of Yunnan Province  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunchao","family":"Zhang","sequence":"additional","affiliation":[{"name":"The third people's Hospital of Yunnan Province  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Chen","sequence":"additional","affiliation":[{"name":"Kunming General Hospital of Chengdu Military Command  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Ding","sequence":"additional","affiliation":[{"name":"Kunming General Hospital of Chengdu Military Command  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunxia","family":"Li","sequence":"additional","affiliation":[{"name":"Yunnan Cancer Hospital &amp; The Third Affiliated Hospital of Kunming Medical University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qilin","family":"Wang","sequence":"additional","affiliation":[{"name":"Yunnan Cancer Hospital &amp; The Third Affiliated Hospital of Kunming Medical University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiying","family":"Wu","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital of Kunming Medical University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Shi","sequence":"additional","affiliation":[{"name":"Yunnan Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine Kunming University of Science and Technology  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9533-1384","authenticated-orcid":false,"given":"Min","family":"Hu","sequence":"additional","affiliation":[{"name":"Yunnan Key laboratory for Basic Research on Bone and Joint Diseases &amp;Yunnan Stem Cell Translational Research Center Kunming University  Kunming Yunnan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi800026k"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-011-0318-0"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.04.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2007.02422.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0370-2"},{"key":"e_1_2_8_9_1","first-page":"360","article-title":"A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family","volume":"13","author":"Liu W.","year":"2007","journal-title":"Molecular Vision"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000117"},{"key":"e_1_2_8_12_1","first-page":"367","article-title":"Current and emerging treatments for the management of osteogenesis imperfecta","volume":"6","author":"Monti E.","year":"2010","journal-title":"Therapeutics & Clinical Risk Management"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2003.11.004"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9430"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(82)92101-5"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12371","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12371","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12371","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12371","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T05:02:35Z","timestamp":1693630955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,18]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/ahg.12371"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12371","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"type":"print","value":"0003-4800"},{"type":"electronic","value":"1469-1809"}],"subject":[],"published":{"date-parts":[[2019,12,18]]},"assertion":[{"value":"2018-11-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}