{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:22Z","timestamp":1787894362045,"version":"build-2784847793"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Marden\u2013Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed. Here, we describe a Brazilian female infant with classic manifestations of MWS, carrying a heterozygous pathogenic variant in the\n                    <jats:italic>PIEZO2<\/jats:italic>\n                    gene not previously reported in MWS. To our knowledge, this is the first molecularly confirmed MWS case from Brazil, thus expanding both the genotype\u2013phenotype spectrum and geographic distribution of\n                    <jats:italic>PIEZO2<\/jats:italic>\n                    \u2010related disorders. Comparative analysis of previously reported molecularly confirmed cases reveals shared core features and highlights the prominent neurological involvement observed in our patient. A review of individuals with the same\n                    <jats:italic>PIEZO2<\/jats:italic>\n                    variant demonstrates marked phenotypic variability\u2014from Gordon syndrome to distal arthrogryposis type 5\u2014underscoring allelic heterogeneity and variable expressivity. This case refines the phenotypic spectrum of\n                    <jats:italic>PIEZO2<\/jats:italic>\n                    \u2010related disorders and illustrates how allelic heterogeneity contributes to wide clinical variability, while also underscoring the importance of including underrepresented populations in variant interpretation.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70046","type":"journal-article","created":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T06:52:31Z","timestamp":1769151151000},"page":"1156-1161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Genotype\u2013Phenotype Correlation of Marden\u2013Walker Syndrome due to\n                    <i>PIEZO2<\/i>\n                    Gene Variants: A Case Report From Brazil"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6345-1735","authenticated-orcid":false,"given":"Guilherme Sotto","family":"Battiston","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Morphology and Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5207-4998","authenticated-orcid":false,"given":"Carolina de Souza","family":"Araujo","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Morphology and Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4431-4717","authenticated-orcid":false,"given":"Fernanda Araujo","family":"Romera","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Morphology and Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7443-559X","authenticated-orcid":false,"given":"Andr\u00e9 Luis","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Morphology and Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1592-4439","authenticated-orcid":false,"given":"\u00c9rica Trovisco","family":"Martins","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Hospital S\u00e3o Paulo (HSP), Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9035-133X","authenticated-orcid":false,"given":"Carolina Galh\u00f3s","family":"de Aguiar","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8193-6307","authenticated-orcid":false,"given":"Jos\u00e9 Eduardo Mour\u00e3o","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4200-2066","authenticated-orcid":false,"given":"Rodrigo","family":"Ragazzini","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7629-4904","authenticated-orcid":false,"given":"Daniela Testoni","family":"Costa\u2010Nobre","sequence":"additional","affiliation":[{"name":"Division of Neonatal Pediatrics, Department of Pediatrics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9700-9022","authenticated-orcid":false,"given":"Ana Claudia Yoshikumi","family":"Prestes","sequence":"additional","affiliation":[{"name":"Division of Neonatal Pediatrics, Department of Pediatrics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2200-9140","authenticated-orcid":false,"given":"Allan Chiaratti","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Division of Neonatal Pediatrics, Department of Pediatrics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1368-2381","authenticated-orcid":false,"given":"Eduardo","family":"Perrone","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Morphology and Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"},{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7005-3544","authenticated-orcid":false,"given":"D\u00e9bora Gusm\u00e3o","family":"Melo","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Morphology and Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2025.105423"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37997"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605\u2010200101000\u201000009"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1602812"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.009"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101216"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102308\u20107"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2019.7381"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090120093009"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.015"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2022.102572"},{"key":"e_1_2_11_13_1","unstructured":"OMIM.2024.\u201cMarden\u2013Walker Syndrome (Entry #248700).\u201dJohns Hopkins University.https:\/\/omim.org\/entry\/248700#13."},{"key":"e_1_2_11_14_1","unstructured":"Orphanet.2024.\u201cMarden\u2013Walker Syndrome (ORPHA: 2461).\u201dhttps:\/\/www.orpha.net\/en\/disease\/detail\/2461."},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.1995.tb03964.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100680\u20101"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102020\u2010106901"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.1993.tb03823.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62052"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61142"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70046","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70046","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:45:38Z","timestamp":1787892338000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,22]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ajmga.70046"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70046","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,22]]},"assertion":[{"value":"2025-12-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}