{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:59:44Z","timestamp":1775307584832,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T00:00:00Z","timestamp":1537660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["14\u201015\u201000772"],"award-info":[{"award-number":["14\u201015\u201000772"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>The application of array\u2010based comparative genomic hybridization and next\u2010generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations are described within the short arm of chromosome 18 in patients with skin diseases. In particular, full or partial monosomy 18p has also been associated with <jats:italic>keratosis pilaris<\/jats:italic>. Here, for the first time, we report a young male patient with intellectual disability, diabetes mellitus (type I), and <jats:italic>keratosis pilaris<\/jats:italic>, who exhibited a de novo 45\u2010kb microduplication of exons 4\u201322 of <jats:italic>LAMA1<\/jats:italic>, located at 18p11.31, and a 432\u2010kb 18p11.32 microduplication of paternal origin containing the genes <jats:italic>METTL4<\/jats:italic>, <jats:italic>NDC80<\/jats:italic>, and <jats:italic>CBX3P2<\/jats:italic> and exons 1\u201315 of the <jats:italic>SMCHD1<\/jats:italic> gene. The microduplication of <jats:italic>LAMA1<\/jats:italic> was identified in skin fibroblasts but not in lymphocytes, whereas the larger microduplication was present in both tissues. We propose <jats:italic>LAMA1<\/jats:italic> as a novel candidate gene for <jats:italic>keratosis pilaris<\/jats:italic>. Although inherited from a healthy father, the 18p11.32 microduplication, which included relevant genes, could also contribute to phenotype manifestation.<\/jats:p>","DOI":"10.1002\/ajmg.a.40478","type":"journal-article","created":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T14:46:42Z","timestamp":1537714002000},"page":"2395-2403","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A mosaic intragenic microduplication of <i>LAMA1<\/i> and a constitutional 18p11.32 microduplication in a patient with <i>keratosis pilaris<\/i> and intellectual disability"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0716-4302","authenticated-orcid":false,"given":"Anna A.","family":"Kashevarova","sequence":"first","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"},{"name":"Laboratory of Human Ontogenetics National Research Tomsk State University  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyudmila P.","family":"Nazarenko","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"},{"name":"Chair of Medical Genetics Siberian State Medical University  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolay A.","family":"Skryabin","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"},{"name":"Laboratory of Human Ontogenetics National Research Tomsk State University  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana V.","family":"Nikitina","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislav A.","family":"Vasilyev","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"},{"name":"Laboratory of Human Ontogenetics National Research Tomsk State University  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina N.","family":"Tolmacheva","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariya E.","family":"Lopatkina","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga A.","family":"Salyukova","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"},{"name":"Chair of Medical Genetics Siberian State Medical University  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nataliya N.","family":"Chechetkina","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Research Institute of Medical Genetics, Tomsk NRMC  Tomsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina A.","family":"Vorotelyak","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Biology, Koltzov Institute of Developmental Biology Russian Academy of Sciences  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina P.","family":"Kalabusheva","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Biology, Koltzov Institute of Developmental Biology Russian Academy of Sciences  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veniamin S.","family":"Fishman","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics  Novosibirsk Russia"},{"name":"Novosibirsk State University  Novosibirsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Kzhyshkowska","sequence":"additional","affiliation":[{"name":"Laboratory for Translational Cellular and Molecular Biomedicine National Research Tomsk State University  Tomsk Russia"},{"name":"Department of Innate Immunity and Tolerance Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, University of Heidelberg  Mannheim Germany"},{"name":"Red Cross Blood Service Baden\u2010W\u00fcrttemberg \u2013 Hessen  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Graziano","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Policlinico S. 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