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Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis
Abstract
Inherited ichthyosis is a heterogeneous group of rare cutaneous disorders characterized by hyperkeratosis and scaly skin. So far, only a few genetic studies on ichthyosis have been performed in Iran. Herein, we reported a family with two cases of ichthyosis and hypotrichosis that were investigated by whole exome sequencing. Targeted data analysis identified a novel nonsense variant c.1243C>T (p.Gln415Ter) located at exon 11 of the ST14 gene in the proband. Sanger sequencing showed co-segregation of this mutation with the disease in this family. Further studies are needed to develop knowledge about the spectrum of changes in this gene and their effects on protein function and disease phenotype.