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Trio\u2010based whole exome sequencing identified a novel de novo mutation (c.1102A&gt;T, p.Ile368Phe) in the <jats:italic>HOXA13<\/jats:italic> gene. Heterozygous <jats:italic>HOXA13<\/jats:italic> mutations have been previously reported in hand\u2010foot\u2010genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails. Considering the molecular data, the phenotype in the present patient was defined as the severe end of hand\u2010foot\u2010genital and Guttmacher syndrome spectrum. Our observation expands the clinical spectrum caused by heterozygous <jats:italic>HOXA13<\/jats:italic> mutations and reinforces the difficulty of differential diagnosis on clinical grounds for the disorders with short distal phalanges, short thumbs, and short halluces. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36648","type":"journal-article","created":{"date-parts":[[2014,6,17]],"date-time":"2014-06-17T01:39:54Z","timestamp":1402969194000},"page":"2398-2402","source":"Crossref","is-referenced-by-count":13,"title":["Severe manifestations of hand\u2010foot\u2010genital syndrome associated with a novel <i>HOXA13<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Eri","family":"Imagawa","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Istanbul Medical Faculty Istanbul University Fatih, Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center Fuchu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama 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