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We report four patients from three families presenting with a MASS-like phenotype consisting of tall stature, arachnodactyly, spinal deformations, dural ectasia, pectus and\/or feet deformations, osteoarthritis, and\/or high arched palate. Gene panel sequencing was negative for <jats:italic>FBN1<\/jats:italic> variants. However, it revealed likely pathogenic missense variants in three individuals [c.3936G\u2009&gt;\u2009T p.(Lys1312Asn), c.193G\u2009&gt;\u2009A p.(Asp65Asn)] and a missense variant of unknown significance in the fourth patient [c.4013G\u2009&gt;\u2009A p.(Ser1338Asn)] in propeptide coding regions of <jats:italic>COL2A1<\/jats:italic>. Pathogenic <jats:italic>COL2A1<\/jats:italic> variants are associated with type II collagenopathies comprising a remarkable clinical variablility. Main features include skeletal dysplasia, ocular anomalies, and auditory defects. A MASS-like phenotype has not been associated with <jats:italic>COL2A1<\/jats:italic> variants before. Thus, the identification of likely pathogenic <jats:italic>COL2A1<\/jats:italic> variants in our patients expands the phenotypic spectrum of type II collagenopathies and suggests that a MASS-like phenotype can be assigned to various hereditary disorders of connective tissue. We compare the phenotypes of our patients with related disorders of connective tissue and discuss possible pathomechanisms and genotype\u2013phenotype correlations for the identified <jats:italic>COL2A1<\/jats:italic> variants. Our data recommend <jats:italic>COL2A1<\/jats:italic> sequencing in <jats:italic>FBN1<\/jats:italic>-negative patients suggestive for MASS\/Marfan-like phenotype (without aortopathy).<\/jats:p>","DOI":"10.1038\/s41598-022-08476-7","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T10:05:24Z","timestamp":1647425124000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype"],"prefix":"10.1038","volume":"12","author":[{"given":"Till Joscha","family":"Demal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasja","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helke","family":"Sch\u00fcler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Olfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Fr\u00f6hlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"Speth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yskert","family":"von Kodolitsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S.","family":"Mir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann","family":"Reichenspurner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kubisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3625-3109","authenticated-orcid":false,"given":"Georg","family":"Rosenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"key":"8476_CR1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a004978","volume":"3","author":"S Ricard-Blum","year":"2011","unstructured":"Ricard-Blum, S. 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