{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:27:48Z","timestamp":1782962868575,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T00:00:00Z","timestamp":1593043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004912","name":"Sichuan University","doi-asserted-by":"publisher","award":["20826041B4090"],"award-info":[{"award-number":["20826041B4090"]}],"id":[{"id":"10.13039\/501100004912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and\/or toes, which has been classified into the subtypes A\u2013E. However, the exact cause and mechanism of BD remain to be illuminated. Here, we aim to reveal the clinical and genetic characteristics of a subtype of BD, brachydactyly\u2010anonychia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, a large Chinese family with three members affected by brachydactyly\u2010anonychia was investigated. Both whole\u2010exome sequencing and microarray\u2010based comparative genomic hybridization (CGH) were performed on this family and the results of copy number variation (CNV) were verified by quantitative real\u2010time PCR (qPCR).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All the affected individuals showed short fingers and toes as well as missing nails; and the absence of middle phalanges in figure II\u2010V of the upper and lower extremities was observed by X\u2010ray examination. A duplication involving in the region of 17q24.3 was detected by CGH. The results of qPCR also represented this duplication in 17q24.3 in all the patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In summary, our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly\u2010anonychia in this family, which support the prior report that brachydactyly\u2010anonychia is associated with 17q24.3 duplication, and further indicates the pathogenic correlation between BD and CNVs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1392","type":"journal-article","created":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T10:15:31Z","timestamp":1593080131000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A 17q24.3 duplication identified in a large Chinese family with brachydactyly\u2010anonychia"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7166-6657","authenticated-orcid":false,"given":"Mohan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Obstetrics\/Gynecology Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK) Key Laboratory of Obstetric Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital Sichuan University Chengdu China"},{"name":"State Key Laboratory of Biotherapy and Cancer Center West China Hospital Sichuan University and Collaborative Innovation Center Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueguang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK) Key Laboratory of Obstetric Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongqian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Key Laboratory of Obstetric Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1484-0807","authenticated-orcid":false,"given":"Ying","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK) Key Laboratory of Obstetric Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1017802"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1053\/jhsu.2001.21534"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1620408"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.1.36"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19800"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302249"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/374721"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0809\u2010862"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2009.01238.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/73495"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302255"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/303084"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1392","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1392","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1392","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1392","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T10:55:20Z","timestamp":1708512920000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1392"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,25]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/mgg3.1392"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1392","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,25]]},"assertion":[{"value":"2020-01-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1392"}}