Abstract
AbstractIchthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). We present the findings of a study involving 35 Saudi patients with a clinical diagnosis of ichthyosis vulgaris. For identifying the pathogenic mutation of their disease, we used Sanger sequencing analysis of the extracted DNA samples. We also identified the underlying 22 FLG variants, which have been seen before. However, the detected mutations do not involve the common p.R501* c. 2282del4 mutations reported in European populations. Indeed, we did not identify any statistical influence of the homozygous or heterozygous genotypes on the phenotype severity of the disease.
Funder
King Abdulaziz City for Science and Technology
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference31 articles.
1. Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, et al. S1 guidelines for the diagnosis and treatment of ichthyoses - update. JDDG: J Der Deutschen Dermatologischen Gesellschaft. 2017;15(10):1053–65.
2. Siemens HW. Studien über Vererbung Von Hautkrankheiten. Arch Dermatol Syph. 1929;158(1):111–27.
3. Wells RS, Kerr CB. Genetic classification of Ichthyosis. Arch Dermatol. 1965;92(1):1.
4. Frost P, Van Scott EJ. Ichthyosiform Dermatoses. Classification based on anatomic and biometric observations. Arch Dermatol. 1966;94(2):113.
5. Williams ML, Elias PM. Genetically transmitted, generalized disorders of cornification. The ichthyoses. Dermatol Clin. 1987;5(1):155–78.