{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:09:01Z","timestamp":1787022541388,"version":"build-2736575974"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1\/2000\u20136000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1\/250\u20131000). The X-linked form is associated with mutations in steroid sulfatase\n                    <jats:italic>STS<\/jats:italic>\n                    gene, it is noteworthy that there is a full deletion of the gene in 90% of cases. Ichthyosis vulgaris is caused by heterozygous mutations in the\n                    <jats:italic>FLG<\/jats:italic>\n                    gene encoding filaggrin. It is important to note that the clinical forms of these diseases are indistinguishable. The aim of this study was to search for pathogenic or likely pathogenic mutations which are associated with various forms of the inherited ichthyosis such as other inherited diseases with similar phenotypic signs. The sequencing was done on a HiSeq 4000 sequencer (Illumina) by paired-end reading (2 \u00d7 150 bp). The identified mutation p.Arg2037Ter in the heterozygous condition has been described before in databases as being pathogenic. Also, our patient has a full deletion of the\n                    <jats:italic>STS<\/jats:italic>\n                    gene and it was found that our patient carries two pathogenic mutations which are related to different forms of the inherited ichthyosis.\n                  <\/jats:p>","DOI":"10.1515\/dmpt-2019-0008","type":"journal-article","created":{"date-parts":[[2020,1,22]],"date-time":"2020-01-22T04:01:55Z","timestamp":1579665715000},"source":"Crossref","is-referenced-by-count":3,"title":["X-linked and autosomal dominant forms of the ichthyosis in coinheritance"],"prefix":"10.1515","volume":"34","author":[{"given":"Diana A.","family":"Alaverdian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikhail","family":"Fedyakov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Polennikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Ivashchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Shcherbak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Urasov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktoriya","family":"Tsay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.S.","family":"Glotov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref101","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sor\u00e8ze 2009","volume":"63","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"ref181","first-page":"360","article-title":"Catching hidden variation: systematic correction of reference minor alleles in clinical variant calling","volume":"20(3)","year":"2017","journal-title":"Genet Med"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","year":"2015","journal-title":"Genet Med"},{"key":"ref71","first-page":"1","article-title":"X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits","volume":"000","year":"2008","journal-title":"Med Genet"},{"key":"ref141","first-page":"A238","article-title":"Frequent deletions at the steroid sulfatase (STS) locus","volume":"41","year":"1987","journal-title":"(Abstract) Am J Hum Genet"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"4519","DOI":"10.1073\/pnas.84.13.4519","article-title":"Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis","volume":"84","year":"1987","journal-title":"Proc Nat Acad Sci"},{"key":"ref161","first-page":"109","article-title":"Nonsyndromic types of ichthyoses \u2013 an update","volume":"12","year":"2014","journal-title":"J German Soc Dermatol"},{"key":"ref61","first-page":"109","article-title":"Nonsyndromic types of ichthyoses \u2013 an update","volume":"12","year":"2014","journal-title":"J German Soc Dermatol"},{"key":"ref131","first-page":"483","article-title":"Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis","volume":"50","year":"1992","journal-title":"Am J Hum Genet"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","year":"2015","journal-title":"Genet Med"},{"key":"ref171","first-page":"1","article-title":"X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits","volume":"000","year":"2008","journal-title":"Med Genet"},{"key":"ref41","first-page":"A238","article-title":"Frequent deletions at the steroid sulfatase (STS) locus","volume":"41","year":"1987","journal-title":"(Abstract) Am J Hum Genet"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1007\/s10038-003-0043-1","article-title":"Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22","volume":"48","year":"2003","journal-title":"J Hum Genet"},{"key":"ref31","first-page":"483","article-title":"Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis","volume":"50","year":"1992","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1046\/j.1365-2133.1999.03098.x","article-title":"X-linked ichthyosis: an update","volume":"141","year":"1999","journal-title":"Br J Derm"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1007\/s10038-003-0043-1","article-title":"Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22","volume":"48","year":"2003","journal-title":"J Hum Genet"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1046\/j.1365-2133.1999.03098.x","article-title":"X-linked ichthyosis: an update","volume":"141","year":"1999","journal-title":"Br J Derm"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sor\u00e8ze 2009","volume":"63","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"ref81","first-page":"360","article-title":"Catching hidden variation: systematic correction of reference minor alleles in clinical variant calling","volume":"20(3)","year":"2017","journal-title":"Genet Med"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"4519","DOI":"10.1073\/pnas.84.13.4519","article-title":"Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked 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