A Coinheritance of X-Linked and Autosomal Dominant forms of the Ichthyosis
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2019, Vol 15, Issue 3
Abstract
According to a modern classification, there are two forms of inherited ichthyosises: syndromic and nonsyndromic, each of them consists of more than ten different nosologies [1]. More common types of the ichthyosis are X-linked recessive (prevalence 1/2000-6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250-1000) [2,3]. The X-linked form is associated with mutations in steroid sulfatase gene STS noteworthy there is a full deletion of the gene in 90% of cases [4-6]. Ichthyosis vulgaris is caused by heterozygous mutations in the gene FLG encoding filaggrin [3]. It is important to note that clinical forms of these diseases are indistinguishable. The aim of this study was the searching for pathogenic or likely pathogenic mutations which associated with various forms of the inherited ichthyosis such as other inherited diseases with the similar phenotypic signs. The sequencing was held on HiSeq 4000 sequencer (“Illumina”) by paired-end reading (2x150 bp). For the processing of the probes we used the method of selective capture of the coding DNA sequences “MedExome”[7]. The identified mutation p.Arg2037Ter in heterozygous condition was described before as pathogenic in data bases [9]. Also there was no coverage of STS gene sequence, which means that the patient has a full deletion of STS gene. Was found that the patient carries two pathogenic mutations which are related to different forms of the inherited ichthyosis. For the genetic counseling such information might be very valuable because of the clinical manifestation similarity. It is recommended to analyze both of genes STS and FLG to exclude the combined forms of ichthyosis.
Authors and Affiliations
Alaverdian D, Fedyakov M, Glotov O
Keywords
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- EP ID EP587700
- DOI 10.26717/BJSTR.2019.15.002693
- Views 181
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