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Recently, <jats:italic>de novo<\/jats:italic> missense and truncating variants have been reported in <jats:italic>DPF2<\/jats:italic> in patients sharing some of the common features of CSS. Here we report a further individual harboring a novel <jats:italic>de novo<\/jats:italic> missense <jats:italic>DPF2<\/jats:italic> variant, c.1066T&gt;G, p.Cys356Gly. Structural modeling indicated that the predicted amino acid substitution affects a core residue required for zinc ion coordination and would likely alter the PHD2 domain structure of DPF2. The clinical presentation of Pierre Robin sequence and diaphragmatic hernia did not immediately suggest CSS, with the more common CSS features of hypoplastic toenails and characteristic facial features very subtle. This individual further broadens the phenotypic features of <jats:italic>DPF2<\/jats:italic>\u2010related CSS, as well as CSS more generally.<\/jats:p>","DOI":"10.1002\/ajmg.a.61262","type":"journal-article","created":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T16:35:26Z","timestamp":1560789326000},"page":"1637-1641","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Expanding the phenotypic spectrum associated with <i>DPF2<\/i>: A new case report"],"prefix":"10.1002","volume":"179","author":[{"given":"Karen M","family":"Knapp","sequence":"first","affiliation":[{"name":"Department of Pathology, Dunedin School of Medicine University of Otago  Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8748-4866","authenticated-orcid":false,"given":"Gemma","family":"Poke","sequence":"additional","affiliation":[{"name":"Genetic Health Service New Zealand  Wellington New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dunedin School of Medicine University of Otago  Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner","family":"Truter","sequence":"additional","affiliation":[{"name":"Department of Child Health MidCentral District Health Board  Palmerston North New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-9322","authenticated-orcid":false,"given":"Louise S.","family":"Bicknell","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dunedin School of Medicine University of Otago  Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00252"},{"key":"e_1_2_7_3_1","first-page":"45","article-title":"Diaphragmatic hernia in the Coffin\u2013Siris syndrome","volume":"9","author":"Delvaux V.","year":"1998","journal-title":"Genetic Counseling"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"29515","DOI":"10.1016\/S0021-9258(18)43910-5","article-title":"Requiem: A novel zinc finger gene essential for apoptosis in myeloid cells","volume":"269","author":"Gabig T. 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