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- Title
Whole‐exome sequencing for diagnosis of hereditary ichthyosis.
- Authors
Sitek, J. C.; Kulseth, M. A.; Rypdal, K. B.; Skodje, T.; Sheng, Y.; Retterstøl, L.
- Abstract
Abstract: Background: Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. Objective: We wanted to estimate the diagnostic yield of applying whole‐exome sequencing (WES) in the routine genetic workup of inherited ichthyosis. Methods: During a 3‐year‐period, all ichthyosis patients, except X‐linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis‐related genes as a first‐line genetic investigation. Clinical and molecular data have been collected retrospectively. Results: Genetic variants causative for the ichthyosis were identified in 27 of 34 investigated patients (79.4%). In all, 31 causative mutations across 13 genes were disclosed, including 12 novel variants. TGM1 was the most frequently mutated gene, accounting for 43.7% of patients suffering from autosomal recessive congenital ichthyosis (ARCI). Conclusion: Whole‐exome sequencing appears an effective tool in disclosing the molecular cause of patients with hereditary ichthyosis seen in clinical practice and should be considered a first‐tier genetic test in these patients.
- Subjects
EXOMES; NUCLEOTIDE sequencing; ICHTHYOSIS; MOLECULAR genetics; DISEASE mapping; GENE mapping; DIAGNOSIS
- Publication
Journal of the European Academy of Dermatology & Venereology, 2018, Vol 32, Issue 6, p1022
- ISSN
0926-9959
- Publication type
Article
- DOI
10.1111/jdv.14870