{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:22:02Z","timestamp":1774560122006,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,8,8]],"date-time":"2018-08-08T00:00:00Z","timestamp":1533686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"FONDAZIONE MANODORI","award":["00165770355"],"award-info":[{"award-number":["00165770355"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>KBG syndrome is characterized by short stature, distinctive facial features, and developmental\/cognitive delay and is caused by mutations in <jats:italic>ANKRD11<\/jats:italic>, one of the ankyrin repeat\u2010containing cofactors. After the advent of whole exome sequencing, the number of clinical reports with KBG diagnosis has increased, leading to a revision of the phenotypic spectrum associated with this syndrome. Here, we report a female child showing clinical features of the KBG syndrome in addition to a caudal appendage at the coccyx with prominent skin fold and a peculiar calcaneus malformation. Exons and exon\u2013intron junctions targeted resequencing of <jats:italic>SH3PXD2B<\/jats:italic> and <jats:italic>MASP1<\/jats:italic> genes, known to be associated with prominent coccyx, gave negative outcome, whereas sequencing of <jats:italic>ANKRD11<\/jats:italic> whose mutations matched the KBG phenotype of the proband showed a de novo heterozygous frameshift variant c.4528_4529delCC in exon 9 of <jats:italic>ANKRD11.<\/jats:italic> This report contributes to expand the knowledge of the clinical features of KBG syndrome and highlights the need to search for vertebral anomalies and suspect this condition in the presence of a prominent, elongated coccyx.<\/jats:p>","DOI":"10.1002\/ajmg.a.40386","type":"journal-article","created":{"date-parts":[[2018,8,8]],"date-time":"2018-08-08T12:54:26Z","timestamp":1533732866000},"page":"1991-1995","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in <i>ANKRD11<\/i>"],"prefix":"10.1002","volume":"176","author":[{"given":"Margherita Lucia","family":"De Bernardi","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department AUSL\u2010IRCCS of Reggio Emilia  Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0113-783X","authenticated-orcid":false,"given":"Ivan","family":"Ivanovski","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department AUSL\u2010IRCCS of Reggio Emilia  Reggio Emilia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano Giuseppe","family":"Caraffi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department AUSL\u2010IRCCS of Reggio Emilia  Reggio Emilia 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