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Up\u2010to\u2010date, 24 patients from 15 families with mEDS have been reported, with 14 families showing inheritance in an autosomal dominant manner and one family in an autosomal recessive manner. We encountered an additional patient with autosomal recessive mEDS. The patient is a 47\u2010year\u2010old Japanese man, born to consanguineous parents with no related features of mEDS. After birth, he presented with hypotonia, weak spontaneous movements, scoliosis, and torticollis. He had soft palms but no skin hyperextensibility or fragility. Progressive scoliosis, undescended testes, and muscular torticollis required surgery. During adulthood, he worked normally and had no physical concerns. Clinical exome analysis revealed a novel homozygous variant in <jats:italic>COL12A1<\/jats:italic> (NM_004370.6:c.395\u20101G\u2009&gt;\u2009A) at the splice acceptor site of exon 6, leading to in\u2010frame skipping of exon 6. The patient was diagnosed with mEDS. The milder manifestations in the current patient compared with previously reported patients with mEDS might be related to the site of the variant. The variant is located in the genomic region encoding the first von Willebrand factor A domain, which affects only the long isoform of collagen XII, in contrast to the variants in previously reported mEDS patients that affected both the long and short isoforms. Further studies are needed to delineate comprehensive genotype\u2013phenotype correlation of the disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.63328","type":"journal-article","created":{"date-parts":[[2023,6,25]],"date-time":"2023-06-25T01:13:22Z","timestamp":1687655602000},"page":"2631-2639","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Homozygous splice site variant affecting the first von <scp>Willebrand<\/scp> factor <scp>A<\/scp> domain of <scp><i>COL12A1<\/i><\/scp> in a patient with myopathic <scp>Ehlers\u2010Danlos<\/scp> syndrome"],"prefix":"10.1002","volume":"191","author":[{"given":"Megumi","family":"Furuhata\u2010Yoshimura","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Department of Pediatrics Saku Medical Center  Saku Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomomi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"},{"name":"Division of Clinical Sequencing Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yayoi","family":"Izu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Animal Science, Faculty of Veterinary Medicine Okayama University of Science  Imabari Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical 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