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To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of <jats:italic>HOXD13<\/jats:italic> could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel <jats:italic>HOXD13<\/jats:italic> mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13\u2009bp deletion within exon 1 of <jats:italic>HOXD13<\/jats:italic> (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13\u2009bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in <jats:italic>HOXD13<\/jats:italic> cause BDA3\u2010BDA4 phenotypes.<\/jats:p>","DOI":"10.1002\/ajmg.a.61788","type":"journal-article","created":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T13:07:47Z","timestamp":1597324067000},"page":"2432-2436","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Brachydactyly type <scp>A3<\/scp> is caused by a novel 13\u2009bp <scp><i>HOXD13<\/i><\/scp> frameshift deletion in a Chinese family"],"prefix":"10.1002","volume":"182","author":[{"given":"Mengshu","family":"Zhang","sequence":"first","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Likui","family":"Lu","sequence":"additional","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Wei","sequence":"additional","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Li","sequence":"additional","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yajun","family":"Shi","sequence":"additional","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Neurology The Affiliated Hospital of Xuzhou Medical University  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6414-368X","authenticated-orcid":false,"given":"Miao","family":"Sun","sequence":"additional","affiliation":[{"name":"Institute for Fetology The First Affiliated Hospital of Soochow University  Suzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24037"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0382"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.852"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng577"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302070"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.157610.113"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-4"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/374721"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.84"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2133476100"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201708"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1602142"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25118"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-15"},{"key":"e_1_2_9_16_1","volume-title":"The genetics of hand malformations","author":"Temtamy S. 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