Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. However, there are still undiscovered genes causing the disease. Methods: We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening. Results: Sixteen likely pathogenic or pathogenic variants were detected in 13 unrelated patients. We identified "variant of unknown significance" alteration in only one patient. Seven novel variants were identified in Conclusions: Because of the wide genetic variability of ichthyosis, it is difficult to diagnose the disease quickly and definitively. The clinical use of next-generation sequencing (NGS) methodologies is beneficial in the diagnostic approach to ichthyosis and genetic counseling. This study highlights the underlying molecular cause of ichthyosis by determining the mutational spectrum in a cohort of 19 patients. This study is the first and largest research from Turkey using NGS that highlights all ichthyosis subtypes.