{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T08:45:10Z","timestamp":1780562710345,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T00:00:00Z","timestamp":1656028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2014\/13\/B\/NZ5\/03102"],"award-info":[{"award-number":["2014\/13\/B\/NZ5\/03102"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype appears to be influenced by the properties of amino acid side chain and the degree of structural aberration of collagen molecules. Since the genotype\u2013phenotype correlation remains unclear, the severity of mutation is mostly predicted according to previously\u2010reported cases. Although the number of OI variants is constantly expanding, no glycine\u2010to\u2010tryptophan substitutions have been reported in <jats:italic>COL1A1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A sample from a 15\u2010year\u2010old girl presenting with progressively\u2010deforming OI type III was tested using an NGS custom gene panel. Multiple bioinformatic and interpretation tools, including mutation databases and conservation analysis, were used for variant classification. The presence of the mutation was verified by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous mutation c.733G&gt;T was identified in the <jats:italic>COL1A1<\/jats:italic> gene (p.Gly245Trp).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The discovery of this novel glycine\u2010to\u2010tryptophan substitution located in the <jats:italic>COL1A1<\/jats:italic> gene broadens the spectrum of mutations underlying this rare disease and provides useful information on the clinical outcome of such substitutions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1996","type":"journal-article","created":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T07:45:20Z","timestamp":1656056720000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The first glycine\u2010to\u2010tryptophan substitution in the <i>COL1A1<\/i> gene identified in a patient with progressively\u2010deforming Osteogenesis imperfecta"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1802-8795","authenticated-orcid":false,"given":"Kinga","family":"Sa\u0142aci\u0144ska","sequence":"first","affiliation":[{"name":"Department of Genetics Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabela","family":"Micha\u0142us","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona","family":"Pinkier","sequence":"additional","affiliation":[{"name":"Department of Genetics Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Rutkowska","sequence":"additional","affiliation":[{"name":"Department of Genetics Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danuta","family":"Chlebna\u2010Sok\u00f3\u0142","sequence":"additional","affiliation":[{"name":"Department of Bone Metabolic Diseases University Centre of Paediatric, Medical University of Lodz  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Jakubowska\u2010Pietkiewicz","sequence":"additional","affiliation":[{"name":"Department of Paediatric Propedeutics and Bone Metabolic Diseases Medical University of Lodz  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz","family":"K\u0119pczy\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Genetics Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik","family":"Salachna","sequence":"additional","affiliation":[{"name":"Department of Genetics Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Gach","sequence":"additional","affiliation":[{"name":"Department of Genetics Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a1ff7b"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi800026k"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn374"},{"key":"e_1_2_9_5_1","first-page":"103","volume-title":"Osteogenesis imperfecta\u2014A translational approach to brittle bone disease","author":"Dalgleish R.","year":"2014"},{"key":"e_1_2_9_6_1","volume-title":"Global variome shared LOVD","author":"Dalgleish R.","year":"2020"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(15)00728\u2010X"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.2147\/AGG.S58766"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.371"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.692978"},{"key":"e_1_2_9_13_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Steiner R. D.","year":"2005"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1996","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1996","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1996","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T13:18:04Z","timestamp":1692796684000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,24]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/mgg3.1996"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1996","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,24]]},"assertion":[{"value":"2021-09-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1996"}}