Autosomal recessive congenital ichthyoses in the Czech Republic
| Authors | |
|---|---|
| Year of publication | 2016 |
| Type | Article in Periodical |
| Magazine / Source | British Journal of Dermatology |
| MU Faculty or unit | |
| Citation | |
| Web | http://onlinelibrary.wiley.com/doi/10.1111/bjd.13918/epdf |
| Doi | http://dx.doi.org/10.1111/bjd.13918 |
| Field | Genetics and molecular biology |
| Keywords | LAMELLAR ICHTHYOSIS; MUTATIONS; GENE; FORM |
| Attached files | |
| Description | Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of disorders of epidermal cornification. Nine genes have been identified to be causative of ARCI, including TGM1 1,2 , ABCA12 3 , NIPAL4 4 , CYP4F22 5 , ALOX12B, ALOXE3 6 , PNPLA1 7 , LIPN 8 , and CERS3 9 . ARCI is rare, with a reported prevalence 1 in 200,000 in European and northern American populations 10 . We started DNA analysis of ARCI in 2012 when PCR-direct sequencing of the TGM1, ALOX12B, ALOXE3, NIPAL4, and CYP4F22 genes was introduced and patients were analysed step by step for mutations in these genes. |
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