{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:30:19Z","timestamp":1762867819052,"version":"3.41.2"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,18]],"date-time":"2019-06-18T00:00:00Z","timestamp":1560816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81602765"],"award-info":[{"award-number":["81602765"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7174340"],"award-info":[{"award-number":["7174340"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X\u2010linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non\u2010scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane\u2010bound transcription factor peptidase, site 2 (<jats:italic>MBTPS2<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present an 11\u2010year\u2010old male with typical clinical features of IFAP syndrome, including diffuse follicular hyperkeratosis, alopecia, photophobia, psoriasiform plaques, short statue, nail dystrophy, mental retardation, and seizures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel missense mutation (NM_015884.4: c.1298T\u00a0&gt;\u00a0C; NP_056968.1: p. L433P) in the membrane\u2010bound transcription factor peptidase, site 2 gene (<jats:italic>MBTPS2<\/jats:italic>) was identified in our patient. The heterozygous <jats:italic>MBTPS2<\/jats:italic> mutation was identified in his mother but not his father.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study demonstrated a novel <jats:italic>MBTPS2<\/jats:italic> mutation in a patient with IFAP syndrome and thus expands the known <jats:italic>MBPTS2<\/jats:italic> molecular repertoire.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.812","type":"journal-article","created":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T09:47:04Z","timestamp":1560937624000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0064-9910","authenticated-orcid":false,"given":"Yanyun","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5145-5388","authenticated-orcid":false,"given":"Hongzhong","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7370-8187","authenticated-orcid":false,"given":"Yueping","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/450937"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22275"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09890.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12587"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.289"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12115"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181e8b562"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2005.01318.x"},{"key":"e_1_2_8_11_1","first-page":"165","article-title":"Three cases of \u201cichthyosis follicularis\u201d associated with baldness","volume":"21","author":"MacLeod J.","year":"1909","journal-title":"British Journal of Dermatology"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-29"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.163"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-017-1762-z"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.014"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2010.01238.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2012.1772"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.02.045"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810490514405"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12248"}],"container-title":["Molecular Genetics &amp; 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