Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification disorders. Of the 14 genes already known to cause ARCI, CYP4F22 is a relatively new genetic etiology, the mutation spectrum of which has yet to be profiled. Using whole-exome sequencing in family trios, we identified the compound heterozygous mutations, c.844C>T (p.R282W) and c.1189C>T (p.R397C), of the CYP4F22 gene...

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