{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T07:03:48Z","timestamp":1793084628872,"version":"4.5.0"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T00:00:00Z","timestamp":1579737600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01481"],"award-info":[{"award-number":["PI15\/01481"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The proximal 19p13.3 microdeletion\/microduplication (prox19p13.3del\/dup) syndrome is a recently described disorder with common clinical features including developmental delay, intellectual disability, speech delay, facial dysmorphic features with ear defects, anomalies of the hands and feet, umbilical hernia and hypotonia. While deletions are associated with macrocephaly, patients with duplications have microcephaly. The smallest region of overlap in multiple patients (113.5\u2009kb) included three genes and one pseudogene, with a suggested major role of\n                    <jats:italic>PIAS4<\/jats:italic>\n                    in determination of the phenotype and head size in these patients. Here, we refine the prox19p13.3del\/dup with four additional patients: two with microdeletions, one with microduplication and one family with single\u2010nucleotide nonsense variant in\n                    <jats:italic>PIAS4<\/jats:italic>\n                    . The patient with the PIAS4 loss of function variant displayed a phenotype quite similar to deletion patients \u2010including the macrocephaly and many other core features of the syndrome. Patient's SNV was inherited from her mother who is similarly affected. Thus, our data indicate that\n                    <jats:italic>PIAS4<\/jats:italic>\n                    is a major contributor to the proximal 19p13.3del\/dup syndrome phenotype. In summary, we report the first patient with a pathogenic variant in\n                    <jats:italic>PIAS4<\/jats:italic>\n                    \u2010 and three additional rearrangements at the proximal 19p13.3 locus. These observations add further evidence about the molecular basis of this microdeletion\/microduplication syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.13689","type":"journal-article","created":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T19:39:05Z","timestamp":1579808345000},"page":"467-476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Further definition of the proximal 19p13.3 microdeletion\/microduplication syndrome and implication of\n                    <scp>\n                      <i>PIAS4<\/i>\n                    <\/scp>\n                    as the major contributor"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"Jair","family":"Tenorio","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ, Hospital Universitario LaPaz\u2010UAM, Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fern\u00e1ndez Almagro  Madrid Spain"},{"name":"ERN\u2010ITHACA, ITHACA European Reference Network"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ, Hospital Universitario LaPaz\u2010UAM, Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fern\u00e1ndez Almagro  Madrid Spain"},{"name":"ERN\u2010ITHACA, ITHACA European Reference Network"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Gonz\u00e1lez\u2010Meneses","sequence":"additional","affiliation":[{"name":"Dysmorphology and Metabolism unit, Hospital Universitario Virgen del Roc\u00edo, Av. Manuel Siurot  Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ, Hospital Universitario LaPaz\u2010UAM, Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fern\u00e1ndez Almagro  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Dap\u00eda","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ, Hospital Universitario LaPaz\u2010UAM, Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fern\u00e1ndez Almagro  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Venegas\u2010Vega","sequence":"additional","affiliation":[{"name":"Unidadde Gen\u00e9tica, Hospital General de M\u00e9xico, M\u00e9xico City, Mexico, Facultad deMedicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico  M\u00e9xico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Calvente","sequence":"additional","affiliation":[{"name":"NIMGENETICS, c\/ Faraday, 7 Parque Cient\u00edfico de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ, Hospital Universitario LaPaz\u2010UAM, Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fern\u00e1ndez Almagro  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leandro","family":"Landera","sequence":"additional","affiliation":[{"name":"Congenital Malformations Laboratory, Federal University of Rio de Janeiro, Avenida Carlos Chagas Filho  Rio deJaneiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Ramos","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)\u2010IdiPAZ, Hospital Universitario LaPaz\u2010UAM, Paseo de La Castellana  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fern\u00e1ndez Almagro  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The SOGRI Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Cruz","family":"Cigudosa","sequence":"additional","affiliation":[{"name":"NIMGENETICS, c\/ 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