Investigating the Genetic Cause of Ichthyosis Disease in a Family with Exome Sequencing

Abstract

Background: Ichthyosis is a diverse skin disease characterized by dry skin and itching, particularly affecting the hands. Most forms of this condition are hereditary. Objectives: In this study, we investigated potential new mutations associated with this disease using the new technique of whole-exome sequencing. Methods: In this study, after collecting the patient's blood sample in an EDTA tube and extracting DNA using the salting-out method, next-generation sequencing was performed using the WES method. Following the analysis of the results and identification of the candidate gene, PCR technique and Chromas software were used to confirm the findings. Results: The results indicated the presence of a new variant, NM_001099287: Exon 6:c.C1083A: p.Y361X, in the NIPAL4 gene in a heterozygous form in the parents and a homozygous form in the patient. This variant occurred as a nucleotide substitution in the exon 6 region of the NIPAL4 mRNA sequence. Conclusions: Using the WES technique, it is possible to investigate the presence of new variants related to ichthyosis in a short time and at a low cost.