{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T20:25:23Z","timestamp":1760300723849,"version":"3.40.5"},"reference-count":4,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Introduction:<\/i><\/b> Pathogenic variants in the PIEZO family member 2 (<i>PIEZO2<\/i>) gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5). Out of these, MWS has a recognizable phenotype that can be discerned easily, but the distinction between GS and DA5 is less evident. Few children with pathogenic <i>PIEZO2<\/i> variants have been reported to show posterior fossa anomalies. <b><i>Methods and Results:<\/i><\/b> By candidate gene targeting guided by proper clinical evaluation and neuroimaging findings, a patient with classic MWS harboring a de novo novel variant (c.8237G&#x3e;A, p.W2746*) in the C-terminal region of PIEZO2 was identified. In addition, another girl with the typical clinical features of GS is also described carrying the most prevalent reported variant (c.8057G&#x3e;A, p.R2686H) in <i>PIEZO2<\/i>. The brain MRI of the 2 patients showed Dandy-Walker malformation (DWM). Diffusion tensor imaging visualized anteroposterior and downward aligned thin middle cerebellar peduncle. The association of DWM with arthrogryposis in the presence of <i>PIEZO2<\/i> variants remains quite interesting and provides more evidence that PIEZO2 plays a role in the development of hindbrain although the underlying mechanism remains unclear. Moreover, the 2 girls had distinct foot patterning in the form of shortening of the first and fifth toes. <b><i>Conclusion:<\/i><\/b> Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygous <i>PIEZO2-<\/i>related disorders represent a continuum with overlapping phenotypic features. <\/jats:p>","DOI":"10.1159\/000523956","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T21:00:36Z","timestamp":1651093236000},"page":"389-396","source":"Crossref","is-referenced-by-count":3,"title":["Further Evidence of a Continuum in the Clinical Spectrum of Dominant <b><i>PIEZO2<\/i><\/b>-Related Disorders and Implications in Cerebellar Anomalies"],"prefix":"10.1159","volume":"13","author":[{"given":"Ghada M.H.","family":"Abdel-Salam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan H.","family":"Afifi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6713-9099","authenticated-orcid":false,"given":"Sahar N.","family":"Saleem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed I.","family":"Gadelhak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manar A.","family":"El-Serafy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8028-8566","authenticated-orcid":false,"given":"Inas S.M.","family":"Sayed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,4,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sult.2011.06.005"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.6.3.266"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62052"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61143"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/523956","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/523956","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:56:29Z","timestamp":1745423789000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000523956"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":4,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000523956","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2022]]}}}