{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:22:03Z","timestamp":1758280923536,"version":"3.41.2"},"reference-count":13,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Classical Ehlers\u2013Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility. Classical EDS is predominantly caused by small pathogenic variants in the genes <jats:italic>COL5A1<\/jats:italic> and <jats:italic>COL5A2<\/jats:italic> and occasionally by a <jats:italic>COL1A1<\/jats:italic> point mutation p.(Arg312Cys), while gross deletions or duplications are uncommon. Gonosomal mosaicism is thought to be exceedingly rare with only two cases reported in the literature. We report a child with cEDS due to a rare gross deletion of exons 2\u201365 in the <jats:italic>COL5A1<\/jats:italic> gene, inherited from an unaffected mosaic father. The level of mosaicism in the father was approximately 43% in leucocyte cells and 30% in DNA extracted from skin. Our results expand the allelic spectrum of cEDS variants and suggest that parental mosaicism needs to be considered in patients with suspected cEDS, given its implication for genetic counseling.<\/jats:p>","DOI":"10.1002\/ccr3.6455","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T16:28:06Z","timestamp":1665505686000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Multi\u2010exon <i>COL5A1<\/i> deletion in a child with classical Ehlers\u2013Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8594-2077","authenticated-orcid":false,"given":"Sonja","family":"Strang\u2010Karlsson","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital  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Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22137"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01470-0"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24258"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0356-2"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0661-2"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00797-3"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"volume-title":"ACGS Best Practice Guidelines for Variant Classification in Rare Disease","year":"2020","author":"Ellard 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