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Of the 14 genes already known to cause ARCI, <jats:italic>CYP4F22<\/jats:italic> is a relatively new genetic etiology, the mutation spectrum of which has yet to be profiled. Using whole\u2010exome sequencing in family trios, we identified the compound heterozygous mutations, c.844C&gt;T (p.R282W) and c.1189C&gt;T (p.R397C), of the <jats:italic>CYP4F22<\/jats:italic> gene (NM_173483.4) in a Chinese neonatal boy with a congenital ichthyosis phenotype. In combination with multiple <jats:italic>in silico<\/jats:italic> analyses and the following <jats:italic>in vitro<\/jats:italic> functional studies, we provided evidence to classify these two variations as pathogenic mutations and demonstrated that both variants significantly reduced the CYP4F22 protein amount. Interestingly, the reduction of both mutant CYP4F22 protein could be recovered by trichostatin A (TSA) treatment, suggesting some deacetylation factors involved in regulating the mutant CYP4F22 protein and implying TSA might be a potential candidate compound for congenital ichthyosis caused by <jats:italic>CYP4F22<\/jats:italic> variations.<\/jats:p>","DOI":"10.1111\/1346-8138.16300","type":"journal-article","created":{"date-parts":[[2022,1,11]],"date-time":"2022-01-11T10:04:36Z","timestamp":1641895476000},"page":"550-555","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Whole\u2010exome sequencing identified a novel pathogenic mutation of the <i>CYP4F22<\/i> gene in a Chinese patient with autosomal recessive congenital ichthyosis and <i>in vitro<\/i> study of the mutant CYP4F22 protein"],"prefix":"10.1111","volume":"49","author":[{"given":"Lina","family":"Zhao","sequence":"first","affiliation":[{"name":"Department 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