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Here, we describe a boy with fetal hypokinesia, severe neonatal weakness, striking hyperlaxity, high arched palate, retrognathia, club feet, and pectus excavatum. His motor development was initially delayed but muscle strength improved with time while hyperlaxity remained very severe causing recurrent joint dislocations. Using trio exome sequencing and a copy number variation (CNV) analysis tool, we identified an in\u2010frame de novo heterozygous deletion of the exons 45 to 54 in the <jats:italic>COL12A1<\/jats:italic> gene. Collagen XII immunostaining on cultured skin fibroblasts demonstrated intracellular retention of collagen XII, supporting the pathogenicity of the deletion. The phenotype of our patient is slightly more severe than other cases with dominantly acting mutations, notably with the presence of fetal hypokinesia. This case highlights the importance of CNVs analysis in the <jats:italic>COL12A1<\/jats:italic> gene in patients with a phenotype suggesting Ehlers\u2010Danlos\/myopathy overlap syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62653","type":"journal-article","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T13:40:00Z","timestamp":1641994800000},"page":"1556-1561","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp>Ehlers\u2010Danlos<\/scp>\/myopathy overlap syndrome caused by a large de novo deletion in <scp><i>COL12A1<\/i><\/scp>"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9155-7506","authenticated-orcid":false,"given":"Sandra","family":"Coppens","sequence":"first","affiliation":[{"name":"ULB Center of Human Genetics H\u00f4pital Erasme  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Desmyter","sequence":"additional","affiliation":[{"name":"ULB Center of Human Genetics H\u00f4pital Erasme  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Koch","sequence":"additional","affiliation":[{"name":"Institute for Dental Research and Oral Musculoskeletal Biology and Center for Biochemistry Faculty of Medicine and University Hospital Cologne, University of Cologne  K\u00f6ln Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"\u00d6zcelik","sequence":"additional","affiliation":[{"name":"Institute for Dental Research and Oral Musculoskeletal Biology and Center for Biochemistry Faculty of Medicine and University Hospital Cologne, University of Cologne  K\u00f6ln Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"O'Heir","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Van Bogaert","sequence":"additional","affiliation":[{"name":"Department of Pediatry, CHU Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catheline","family":"Vilain","sequence":"additional","affiliation":[{"name":"ULB Center of Human Genetics H\u00f4pital Erasme  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Christiaens","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Erasme  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Babadi M Lee SK &Smirnov AN.GATK gCNV: Reliable discovery of copy number variation from whole\u2010exome and whole\u2010genome sequencing. 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