283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population

Autosomal recessive congenital ichthyosis (ARCI) refers to a heterogeneous group of disorders characterized by generalized scaling and erythema. We ascertained a cohort of 60 Middle-Eastern families with ARCI. Pathogenic mutations were found in TGM1 (20%), CYP4F22 (19%), ALOX12B (14%), ABCA12 (11%), ALOXE3 (5%), NIPAL4 (4%), PNPLA1 (3%), LIPN (2%), SDR9C7 (2%) and SULT2B1 (2%). In 20 % of the cases, no mutation was found. Our cohort revealed a higher prevalence of CYP4F22 (15%) and ABCA12 (11%) mutations and a lower prevalence of TGM1 (20%) and NIPAL4 (4%) mutations, as compared with other regions of the world.

Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: J. Mohamad, L. Samuelov, N. Malchin, S. Tiaber, T. Rabinowitz, O. Bitterman-Deutsch, V. Molho-Pessach, E. Cohen-Barak, G. Bach, B. Garty, R. Bergman, A. Harel, A. Nanda, G. Lestringant, J. McGrath, S. Shalev, N. Shomron, J. Mashiach, M. Eskin-Schwartz, O. Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research