{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T09:34:55Z","timestamp":1779183295000,"version":"3.51.4"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T00:00:00Z","timestamp":1664323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30\u00a0s. Whole exome sequencing followed by Sanger sequencing validation was performed to identify the genetic cause.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The patient, born to consanguineous Chinese parents, presented with microspherophakia, lens subluxation, high myopia, short statue, small hands and feet, stiff joints, and thickened skin. A diagnosis of Weill-Marchesani syndrome was initially made for her. However, genetic testing reveals that the patient is homozygous for the c.1966G&amp;gt;A (p.Gly656Ser) variant in <jats:italic>ADAMTSL2<\/jats:italic>, and that the patient\u2019s healthy mother and daughter are heterozygous for the variant. As mutations in <jats:italic>ADAMTSL2<\/jats:italic> are known to cause autosomal recessive geleophysic dysplasia, the patient is re-diagnosed with geleophysic dysplasia in terms of her genotype and phenotype.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> The present study describes the clinical phenotype of the homozygous <jats:italic>ADAMTSL2<\/jats:italic> p. Gly656Ser variant, which increases our understanding of the genotype-phenotype correlation in acromelic dysplasias.<\/jats:p>","DOI":"10.3389\/fgene.2022.1014188","type":"journal-article","created":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T07:30:04Z","timestamp":1664350204000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome"],"prefix":"10.3389","volume":"13","author":[{"given":"Mojiang","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingshu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huixing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanqin","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinghua","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,9,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1136\/jmg.2010.087544","article-title":"Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia","volume":"48","author":"Allali","year":"2011","journal-title":"J. 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