{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:10:36Z","timestamp":1753888236903,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T00:00:00Z","timestamp":1628467200000},"content-version":"vor","delay-in-days":220,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011827","name":"Guangxi Medical University","doi-asserted-by":"publisher","award":["2010-459"],"award-info":[{"award-number":["2010-459"]}],"id":[{"id":"10.13039\/501100011827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003536","name":"Youth Foundation","doi-asserted-by":"publisher","award":["GXMUSF201802"],"award-info":[{"award-number":["GXMUSF201802"]}],"id":[{"id":"10.13039\/100003536","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p><jats:italic>Objectives<\/jats:italic>. To discuss the mutational features and their relationships with disease in a family with hereditary multiple osteochondroma (HMO) from Guangxi Province (GXBB\u20101 family), China. <jats:italic>Methods<\/jats:italic>. Genomic DNA and total mRNA were extracted from peripheral blood cells of GXBB\u20101 family members. Whole elements of the <jats:italic>EXT1<\/jats:italic>gene and its transcript, including exons, introns, exon\u2010intron boundaries, and coding sequence (CDS) clones, were amplified and sequenced. Allele\u2010specific PCR was used to confirm the position and type of mutation. <jats:italic>Results<\/jats:italic>. All patients from the GXBB\u20101 family harbored the cosegregating heterozygous c.1056+1G&gt;A mutation located in <jats:italic>EXT1<\/jats:italic>at an exon\u2010intron boundary. Another three single\u2010nucleotide polymorphisms (SNPs) were also detected in the patients, including IVS2+1G&gt;A in intron 2, c.1844\u2009T&gt;C [p.Pro (CCT) 614Pro (CCC)] in exon 3, and c.2534G&gt;A [p.Glu (GAG) 844Glu (GAA)] in exon 9. The latter two SNPs were synonymous variations. <jats:italic>Conclusions<\/jats:italic>. The heterozygous c.1056+1G&gt;A mutation cosegregated with the phenotype, indicating that it is a pathogenic mutation in the GXBB\u20101 family. This mutation is reported for the first time in Chinese HMO patients. IVS2+1G&gt;A and c.2534G&gt;A have no relationship with the occurrence of disease. However, c.1844\u2009T&gt;C and c.1056+1G&gt;A are linked, and their interaction needs to be further studied. c.1844T&gt;C is a new SNP that has not been reported internationally.<\/jats:p>","DOI":"10.1155\/2021\/8888948","type":"journal-article","created":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T21:35:17Z","timestamp":1628544917000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mutational Analysis of <i>EXT1<\/i>in a Chinese Family Affected by Hereditary Multiple Osteochondroma"],"prefix":"10.1155","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0545-391X","authenticated-orcid":false,"given":"Guangzhi","family":"Yuan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjun","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linke","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8306-5605","authenticated-orcid":false,"given":"Peng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6346-6292","authenticated-orcid":false,"given":"Huayu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,9]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.2106\/jbjs.j.00949"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2008.070086"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2009.00508.x"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.430"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900058"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000012855"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11596-014-1230-3"},{"key":"e_1_2_10_9_2","first-page":"263","article-title":"Investigation of polymorphisms in causal genes of HME:EXT1 and EXT2","volume":"32","author":"Wei F. A. N. G.","year":"2011","journal-title":"JOURNAL OF SUN YAT-SEN UNIVERSITY (MEDICAL SCIENCES)"},{"key":"e_1_2_10_10_2","first-page":"174","article-title":"A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses","volume":"16","author":"Wei W. A. N. G.","year":"2014","journal-title":"Chin J ContempPediatr"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.11.055"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-015-0564-3"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40064-016-1695-6"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/301726"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.382"},{"key":"e_1_2_10_16_2","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0040"},{"key":"e_1_2_10_17_2","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0040"},{"key":"e_1_2_10_18_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M304831200"},{"key":"e_1_2_10_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-4165(02)00402-6"},{"key":"e_1_2_10_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12863-016-0359-4"},{"key":"e_1_2_10_21_2","first-page":"625","article-title":"Study on EXT gene mutation of a pedigree with hereditary multiple exostoses","volume":"7","author":"Qi-hua F. U.","year":"2008","journal-title":"J Diagn Concepts Pract"},{"key":"e_1_2_10_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9467"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2021\/8888948.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2021\/8888948.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2021\/8888948","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T07:03:10Z","timestamp":1735628590000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2021\/8888948"}},"subtitle":[],"editor":[{"given":"Paul","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1155\/2021\/8888948"],"URL":"https:\/\/doi.org\/10.1155\/2021\/8888948","archive":["Portico"],"relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"type":"print","value":"2314-6133"},{"type":"electronic","value":"2314-6141"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"2020-09-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8888948"}}