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It may exist as an isolated feature or associated with other cutaneous or systemic disorders. Although a number of genes have been described to cause leukonychia, still the underlying genetic etiologies of many cases remain unknown. Here, we report a Pakistani family presenting leukonychia and koilonychia nails in mother and five of her kids. All the affected individuals had white to pale nails in appearance exhibiting complete and partial leukonychia, respectively. Similarly, nails of finger and toe appeared brittle and concave, showing the characteristics features of koilonychia. Whole exome sequencing and subsequent Sanger sequencing identified a pathogenic novel missense mutation (c.1390G&gt;A, p.Glu464Lys) in <jats:italic>PLCD1<\/jats:italic>, co-segregating with the disorder in an autosomal dominant pattern.<jats:italic> In silico<\/jats:italic> prediction tools supported the pathogenicity of the identified mutation. Literature review determined that mutations in <jats:italic>PLCD1<\/jats:italic> only cause leukonychia. Therefore, our findings add another pathogenic variant to the <jats:italic>PLCD1<\/jats:italic> mutation pool causing leukonychia that would help to understand the underlying molecular mechanism.<\/jats:p>","DOI":"10.1038\/s10038-018-0491-2","type":"journal-article","created":{"date-parts":[[2018,7,22]],"date-time":"2018-07-22T22:15:48Z","timestamp":1532297748000},"page":"1071-1076","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family"],"prefix":"10.1038","volume":"63","author":[{"given":"Teka","family":"Khan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manan","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayesha","family":"Yousaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3894-3085","authenticated-orcid":false,"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akram","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghulam","family":"Murtaza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asim","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazish","family":"Jabeen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hafiz Muhammad Jafar","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanwei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Zubair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohua","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,7,23]]},"reference":[{"key":"491_CR1","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1177\/000992280504400610","volume":"44","author":"F Assadi","year":"2005","unstructured":"Assadi F. 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