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DDSH is caused by biallelic pathogenic variants in <jats:italic>HSPG2<\/jats:italic> encoding perlecan, whereas the genetic cause of DDRD remains undetermined. Schwartz\u2013Jampel syndrome (SJS) is also caused by biallelic pathogenic variants in <jats:italic>HSPG2<\/jats:italic> and is an allelic disorder of DDSH. In SJS and DDSH, 44 and 8 pathogenic variants have been reported in <jats:italic>HSPG2<\/jats:italic>, respectively. Here, we report that five patients with DDRD carried four pathogenic variants in <jats:italic>HSPG2<\/jats:italic>: c.9970\u2009G\u2009&gt;\u2009A (p.G3324R), c.559\u2009C\u2009&gt;\u2009T (p.R187X), c7006\u2009+\u20091\u2009G\u2009&gt;\u2009A, and c.11562\u2009+\u20092\u2009T\u2009&gt;\u2009G. Two patients were homozygous for p.G3324R, and three patients were heterozygous for p.G3324R. Haplotype analysis revealed a founder haplotype spanning 85,973\u2009bp shared in the five patients. SJS, DDRD, and DDSH are allelic disorders with pathogenic variants in <jats:italic>HSPG2<\/jats:italic>.<\/jats:p>","DOI":"10.1038\/s10038-024-01229-6","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T08:02:33Z","timestamp":1709193753000},"page":"235-244","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Dyssegmental dysplasia Rolland\u2013Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients"],"prefix":"10.1038","volume":"69","author":[{"given":"Paniz","family":"Farshadyeganeh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5370-7873","authenticated-orcid":false,"given":"Takahiro","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuriko","family":"Oishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misa","family":"Nunode","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuku","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Murotsuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5492-9072","authenticated-orcid":false,"given":"Tomoo","family":"Ogi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eri","family":"Arikawa-Hirasawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1529-2750","authenticated-orcid":false,"given":"Kinji","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,2,29]]},"reference":[{"key":"1229_CR1","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1002\/ajmg.1320270208","volume":"27","author":"KA Aleck","year":"1987","unstructured":"Aleck KA, Grix A, Clericuzio C, Kaplan P, Adomian GE, Lachman R, et al. 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