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In this study, we investigated a Chinese family with SPD and genetic analysis found that all of the affected individuals in the family carry a heterozygous 11,451 bp microdeletion at chr2:176933872\u2010176945322 (GRCh37), which is located upstream of <jats:italic>HOXD13<\/jats:italic> gene, the known disease gene for SPD1. All the affected individuals in the family carry the heterozygous deletion variant, and the variant co\u2010segregated with SPD in the family. Thus, we speculate that the 11,451\u2009bp microdeletion is the disease\u2010causing variant in the family. To date, the microdeletion associating with SPD1 which we identified is the smallest deletion upstream of the <jats:italic>HOXD13<\/jats:italic> gene and not altering the sequence of the <jats:italic>HOXD13<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.62480","type":"journal-article","created":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T06:49:49Z","timestamp":1630478989000},"page":"31-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel microdeletion upstream of <scp><i>HOXD13<\/i><\/scp> in a Chinese family with synpolydactyly"],"prefix":"10.1002","volume":"188","author":[{"given":"Weimin","family":"Jia","sequence":"first","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research Huazhong University of Science and Technology  Wuhan Hubei 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