{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T07:58:16Z","timestamp":1770883096951,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:00:00Z","timestamp":1657584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["L192052"],"award-info":[{"award-number":["L192052"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthopaedic Surgery"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:p>Brachydactyly is a common feature of congenital hand anomalies characterized by shortening of the phalanges and\/or metacarpals. Mutation of growth differentiation factor\u20105 (GDF5) may result in loss of appearance and function in brachydactyly type C (BDC). Herein, we describe an 11\u00a0year\u2010old Chinese BDC patient with significant shortening of the 1st, 2nd, 3rd, and 5th digits. Notably, according to the analysis of metacarpophalangeal pattern profiles, we do not think the 4th digit appears unaffected as usual. In this patient a novel heterozygous frameshift mutation was identified (c.349delG) causing termination of translation after translating six amino acids from codon 117 (p.A117fs*6). This mutation is located in the propeptide region of GDF5, causing GDF5 haploinsufficiency in BDC. Considering our results expanding the genetic spectrum of BDC\u2010causing mutations, further molecular analysis to diagnose and reclassify isolated brachydactyly on the basis of genotype rather than phenotype is warranted.<\/jats:p>","DOI":"10.1111\/os.13383","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T11:20:55Z","timestamp":1657624855000},"page":"2386-2390","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report"],"prefix":"10.1111","volume":"14","author":[{"given":"Qiuya","family":"Li","sequence":"first","affiliation":[{"name":"Peking University Fourth School of Clinical Medicine  Beijing China"},{"name":"Department of Hand Surgery Beijing Ji Shui Tan Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Bai","sequence":"additional","affiliation":[{"name":"Peking University Fourth School of Clinical Medicine  Beijing China"},{"name":"Department of Hand Surgery Beijing Ji Shui Tan Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1027-338X","authenticated-orcid":false,"given":"Shanlin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Hand Surgery Beijing Ji Shui Tan Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,12]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"1","volume-title":"On brachydactyly and symphalangism","author":"Bell J","year":"1951"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-15"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diii.2014.12.007"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2013.33.2.150"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20349"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013904"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.07.004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2014.07.029"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25118"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0253-7"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<369::AID-AJMG23>3.0.CO;2-Q"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-18"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201708"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01912484"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1998.13.3.383"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000357264"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115803"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010122)98:3<256::AID-AJMG1088>3.0.CO;2-D"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10777"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10924"},{"key":"e_1_2_8_22_1","unstructured":"National Center for Biotechnology Information.ClinVar [VCV000265991.1]. 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