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We report a Chinese patient displaying features of IFAP triad along with painful palmoplantar keratoderma, recurrent infections, periorificial keratotic plaques, nail dystrophy, and pachyonychia. Whole\u2010exome sequencing revealed an intronic variant (NM_015884.3: exon7:c.970+5G&gt;A) in the gene <jats:italic>MBTPS2<\/jats:italic>. Sanger sequencing confirmed that the variant segerated with phenotype in the family. Sequencing of cDNAs derived from the patient indicated the variant introduced a new splice donor site, leading to partial skipping of exon 7 (r.951_970del). An in vitro mini\u2010gene assay also revealed abnormal splicing of exon 7. This study presents a case complicated with X\u2010linked IFAP syndrome and Olmsted syndrome, and highlights the significance of using validation assays to identify the pathogenicity of intronic variants in <jats:italic>MBTPS2<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/1346-8138.16684","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T05:23:32Z","timestamp":1671600212000},"page":"715-719","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An intronic splice\u2010site variant in <i>MBTPS2<\/i> underlies ichthyosis follicularis with atrichia and photophobia syndrome"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8163-7916","authenticated-orcid":false,"given":"Gang","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology The First Affiliated Hospital, Anhui Medical University  Hefei 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