{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:18Z","timestamp":1747146198045,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T00:00:00Z","timestamp":1656720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>EVEN\u2010PLUS syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the mitochondrial chaperone called mortalin, encoded by <jats:italic>HSPA9<\/jats:italic>. This genetic disorder, presenting with several overlapping features with CODAS syndrome, is characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose (EVEN), PLUS associated findings. Only five individuals presenting with the EVEN\u2010PLUS phenotype and biallelic variants in <jats:italic>HSPA9<\/jats:italic> have been published. Here, we expand the phenotypic and molecular spectrum associated with this disorder, reporting two sibs with a milder phenotype and compound heterozygous pathogenic variants (a recurrent variant and a novel one). Also, we confirm a homozygous pathogenic variant in the family originally reported as EVE dysplasia.<\/jats:p>","DOI":"10.1002\/ajmg.a.62883","type":"journal-article","created":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T14:43:53Z","timestamp":1656773033000},"page":"2819-2824","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Broadening the phenotypic spectrum of <scp>EVEN\u2010PLUS<\/scp> syndrome through identification of <scp><i>HSPA9<\/i><\/scp> pathogenic variants in the original <scp>EVE<\/scp> dysplasia family and two sibs with milder facial phenotype"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3751-3240","authenticated-orcid":false,"given":"Marta","family":"Pacio\u2010Miguez","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Parr\u00f3n\u2010Pajares","sequence":"additional","affiliation":[{"name":"Servicio de Radiodiagn\u00f3stico. Hospital Universitario La Paz  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE) and European Reference Network on Rare Bone Diseases ERN\u2010BOND Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher T.","family":"Gordon","sequence":"additional","affiliation":[{"name":"INSERM U1163 Universit\u00e9 de Paris, Institut Imagine  Paris France"},{"name":"Service de G\u00e9nomique des Maladies Rares, H\u00f4pital Necker Enfants Malades APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1201-9118","authenticated-orcid":false,"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE) and European Reference Network on Rare Bone Diseases ERN\u2010BOND Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA\u2010European Reference Network  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Rodr\u00edguez Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocio","family":"Mena","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inmaculada","family":"Rueda Arenas","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria Eugenia","family":"F. Monta\u00f1o","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9108-2835","authenticated-orcid":false,"given":"Mario","family":"Sol\u00eds","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngela","family":"del Pozo","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[{"name":"INSERM U1163 Universit\u00e9 de Paris, Institut Imagine  Paris France"},{"name":"Service de G\u00e9nomique des Maladies Rares, H\u00f4pital Necker Enfants Malades APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sixto","family":"Garc\u00eda\u2010Mi\u00f1aur","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"ITHACA\u2010European Reference Network  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2727-7654","authenticated-orcid":false,"given":"Mar\u00eda","family":"Palomares\u2010Bralo","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"ITHACA\u2010European Reference Network  Madrid Spain"},{"name":"Universidad Rey Juan Carlos  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.7.561"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jpcb.9b00071"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.4172\/1747-0862.1000350"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep17154"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61808"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62883","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62883","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62883","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T05:15:47Z","timestamp":1692681347000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62883"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,2]]},"references-count":6,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/ajmg.a.62883"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62883","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2022,7,2]]},"assertion":[{"value":"2021-10-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}