{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T04:22:04Z","timestamp":1770956524545,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T00:00:00Z","timestamp":1527120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a novel homozygous deletion of a 1\u2010bp (c.161delC, p.P54RfsX60) in the <jats:italic>C16orf57<\/jats:italic>gene, presumed to be causative.<\/jats:p><jats:p>This report presents the variability of the clinical manifestations and evolution of PN and emphasizes the importance of studying other patients with PN to better delineate mutations profile among populations.<\/jats:p>","DOI":"10.1002\/pbc.27262","type":"journal-article","created":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T15:36:05Z","timestamp":1527176165000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Poikiloderma with neutropenia in a Tunisian patient with a novel <i>C16orf57<\/i> gene mutation"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2289-3551","authenticated-orcid":false,"given":"Rania","family":"Sakka","sequence":"first","affiliation":[{"name":"Laboratory of Histology and Cytogenetics (Research Unit of Genetic Genotoxicity and Childhood Diseases UR12ES10) Faculty of Medicine University of Monastir  Street Avicenne, 5019 Monastir Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahri","family":"Mahjoub","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tahar Sfar University Hospital  Mahdia Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emna","family":"Kerkeni","sequence":"additional","affiliation":[{"name":"Laboratory of Histology and Cytogenetics (Research Unit of Genetic Genotoxicity and Childhood Diseases UR12ES10) Faculty of Medicine University of Monastir  Street Avicenne, 5019 Monastir Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Werdani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tahar Sfar University Hospital  Mahdia Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoudha","family":"Boussoffara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tahar Sfar University Hospital  Mahdia Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassen","family":"Ben Cheikh","sequence":"additional","affiliation":[{"name":"Laboratory of Histology and Cytogenetics (Research Unit of Genetic Genotoxicity and Childhood Diseases UR12ES10) Faculty of Medicine University of Monastir  Street Avicenne, 5019 Monastir Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ridha","family":"M'rad","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics Doctoral School of Science and Biotechnology Faculty of Medicine of Tunis University of Tunis El Manar  1007 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Taher","family":"Sfar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tahar Sfar University Hospital  Mahdia Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.014"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33600"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq371"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30430"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09929.x"},{"key":"e_1_2_9_9_1","first-page":"331","article-title":"Clericuzio\u2010type poikiloderma with neutropenia syndrome in a Turkish 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