{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T02:04:00Z","timestamp":1787623440695,"version":"build-2736575974"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.ejpn.2026.01.003","type":"journal-article","created":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T16:14:52Z","timestamp":1771690492000},"page":"24-35","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review"],"prefix":"10.1016","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3607-8523","authenticated-orcid":false,"given":"D.","family":"Diodato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4121-1798","authenticated-orcid":false,"given":"L.","family":"Bosco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Catteruccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3350-2392","authenticated-orcid":false,"given":"A.","family":"Sancesario","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4759-0461","authenticated-orcid":false,"given":"J.","family":"Jofr\u00e8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Suarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Lacaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9083-7837","authenticated-orcid":false,"given":"M.","family":"Tosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"De Luca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Mizzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Pro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bellacchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1820-8489","authenticated-orcid":false,"given":"F.","family":"Fattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Castiglioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"D'Amico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2026.01.003_bib1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1126\/science.1193270","article-title":"Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels","volume":"330","author":"Coste","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.ejpn.2026.01.003_bib2","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1146\/annurev-biochem-081720-023244","article-title":"The form and function of PIEZO2","volume":"90","author":"Szczot","year":"2021","journal-title":"Annu. Rev. Biochem."},{"issue":"12","key":"10.1016\/j.ejpn.2026.01.003_bib3","doi-asserted-by":"crossref","first-page":"4667","DOI":"10.1073\/pnas.1221400110","article-title":"Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis","volume":"110","author":"Coste","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"3","key":"10.1016\/j.ejpn.2026.01.003_bib4","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1002\/ajmg.a.62052","article-title":"Confirming the involvement of PIEZO2 in the etiology of Marden\u2013Walker syndrome","volume":"185","author":"Seidahmed","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"1","key":"10.1016\/j.ejpn.2026.01.003_bib5","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/ajmg.a.37997","article-title":"Familial Gordon syndrome associated with a PIEZO2 mutation","volume":"173","author":"Alisch","year":"2017","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2026.01.003_bib6","first-page":"549","article-title":"The role of PIEZO2 in human mechanosensation","volume":"47","author":"Chesler","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ejpn.2026.01.003_bib7","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1016\/j.ajhg.2016.09.019","article-title":"Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis","volume":"99","author":"Delle Vedove","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2026.01.003_bib8","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/cge.12850","article-title":"Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures","volume":"91","author":"Mahmud","year":"2017","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.ejpn.2026.01.003_bib9","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1177\/088307389300800408","article-title":"Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood","volume":"8","author":"Parano","year":"1993","journal-title":"J. Child Neurol."},{"issue":"3","key":"10.1016\/j.ejpn.2026.01.003_bib10","first-page":"175","article-title":"Distal arthrogryposis with impaired proprioception and touch: a novel variant in PIEZO2 gene in Omani patients and a genotype-phenotype review from a single-center experience","volume":"13","author":"Al Balushi","year":"2023","journal-title":"J. Pediatr. Genet."},{"issue":"10","key":"10.1016\/j.ejpn.2026.01.003_bib11","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1097\/CM9.0000000000001500","article-title":"A rare case with compound heterozygous mutations of piezo-type mechanosensitive ion channel component 2 (PIEZO2) induced tracheobronchomalacia","volume":"134","author":"Wu","year":"2021","journal-title":"Chin. Med. J. (Taipei)"},{"key":"10.1016\/j.ejpn.2026.01.003_bib12","doi-asserted-by":"crossref","DOI":"10.1016\/j.hmedic.2024.100087","article-title":"Novel PIEZO 2 mutations resulting in distal arthrogyposis with impaired proprioception and touch, alongside epilepsy: a clinical case report","volume":"6","author":"Hafeez","year":"2024","journal-title":"Medical Reports"},{"key":"10.1016\/j.ejpn.2026.01.003_bib13a","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.620752","article-title":"Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene","volume":"12","author":"Klaniewska","year":"2021","journal-title":"Front. Genet."},{"issue":"6","key":"10.1016\/j.ejpn.2026.01.003_bib13b","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1002\/ajmg.a.61142","article-title":"PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review","volume":"179","author":"Yamaguchi","year":"2019","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejpn.2026.01.003_bib14","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1002\/ajmg.a.61142","article-title":"PIEZO2 deficiency is a recognizable arthrogryposis syndrome: a new case and literature review","volume":"179","author":"Yamaguchi","year":"2019","journal-title":"Am. J. Med. Genet."},{"issue":"11","key":"10.1016\/j.ejpn.2026.01.003_bib15","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1038\/s41580-024-00773-5","article-title":"Mechanisms of mechanotransduction and physiological roles of PIEZO channels","volume":"25","author":"Xiao","year":"2024","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"5","key":"10.1016\/j.ejpn.2026.01.003_bib16","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.ajhg.2024.03.007","article-title":"\u2217 the clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing","volume":"111","author":"Li","year":"2024","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejpn.2026.01.003_bib17","doi-asserted-by":"crossref","first-page":"2760","DOI":"10.1016\/j.celrep.2017.11.035","article-title":"Cell-Type-Specific splicing of Piezo2 regulates mechanotransduction","volume":"21","author":"Szczot","year":"2017","journal-title":"Cell Rep."},{"issue":"12","key":"10.1016\/j.ejpn.2026.01.003_bib18","doi-asserted-by":"crossref","first-page":"5098","DOI":"10.1093\/brain\/awad254","article-title":"Neuromuscular disease genetics in under-represented populations: increasing data diversity","volume":"146","author":"Wilson","year":"2023","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.ejpn.2026.01.003_bib19","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1159\/000494451","article-title":"Distal arthrogryposis with impaired proprioception and touch: description of an early phenotype in a boy with compound heterozygosity of PIEZO2 mutations and review of the literature","volume":"9","author":"Behunova","year":"2019","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ejpn.2026.01.003_bib20","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/s41586-019-1505-8","article-title":"Structure and mechanogating of the mammalian tactile channel PIEZO2","volume":"573","author":"Wang","year":"2019","journal-title":"Nature"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379826000036?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379826000036?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T22:36:47Z","timestamp":1778798207000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379826000036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":21,"alternative-id":["S1090379826000036"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2026.01.003","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2026.01.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}