{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T17:20:18Z","timestamp":1775841618976,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe a patient with a 1.34\u2009Mb microdeletion at chromosome band 17q22, which is also present in his affected mother. To better delineate this microdeletion syndrome, we compare the clinical and molecular characteristics of 10 previously reported cases and our patient. Of these, the present patient has the smallest deletion which includes five genes: <jats:italic>MMD<\/jats:italic>, <jats:italic>TMEM100<\/jats:italic>, <jats:italic>PCTP<\/jats:italic>, <jats:italic>ANKFN1<\/jats:italic>, and <jats:italic>NOG<\/jats:italic>. We compare the clinical manifestations described in relation to <jats:italic>NOG<\/jats:italic>, since this is the only gene whose loss is shared by our patient and the other eight patients. Previously, the clinical patterns associated with <jats:italic>NOG<\/jats:italic> mutations have been included under the general term \u201c<jats:italic>NOG\u2010related symphalangism spectrum disorder (NOG\u2010SSD)<\/jats:italic>.\u201d Based on our analyses, and considering that there is a clinical correlation observed in cases with a \u201c17q22 microdeletion including <jats:italic>NOG<\/jats:italic>\u201d of which the main characteristics can be contributed to loss of this gene, we propose that the clinical patterns observed in these patients should be named as <jats:italic>NOG\u2010spectrum disorder\u2010contiguous gene syndrome<\/jats:italic> (NOGSD\u2010CGS). This designation is important for clinicians because when a patient has defects concordant with alterations of <jats:italic>NOG<\/jats:italic> but also presents other anomalies not related to this gene, they would be able to suspect the existence of a microdeletion affecting 17q22, therefore, allowing an early diagnosis. This will also enable the clinician to provide the family with adequate information about the prognosis and the risk of reoccurrence in future potential offspring. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37117","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:49:06Z","timestamp":1429674546000},"page":"2034-2041","source":"Crossref","is-referenced-by-count":5,"title":["Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date"],"prefix":"10.1002","volume":"167","author":[{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fern\u00e1ndez","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Centro de Investigaci\u00f3n sobre Anomal\u00edas Cong\u00e9nitas (CIAC), Estudio Colaborativo Espa\u00f1ol de Malformaciones Cong\u00e9nitas (ECEMC) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaquin","family":"Fern\u00e1ndez\u2010Toral","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Hospital Universitario Central de Asturias Oviedo Asturias Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Llano\u2010Rivas","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Biocruces Health Research Institute Hospital Universitario Cruces Barakaldo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Bermejo\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Centro de Investigaci\u00f3n sobre Anomal\u00edas Cong\u00e9nitas (CIAC), Estudio Colaborativo Espa\u00f1ol de Malformaciones Cong\u00e9nitas (ECEMC) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n sobre Anomal\u00edas Cong\u00e9nitas (CIAC), Estudio Colaborativo Espa\u00f1ol de Malformaciones Cong\u00e9nitas (ECEMC) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Centro de Investigaci\u00f3n sobre Anomal\u00edas Cong\u00e9nitas (CIAC), Estudio Colaborativo Espa\u00f1ol de Malformaciones Cong\u00e9nitas (ECEMC) Instituto de Salud Carlos III, Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Dpto. Farmacolog\u00eda, Facultad de Medicina Universidad Complutense Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01245"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30900"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34307"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.306"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.125"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33827"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.21.12027"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21515"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.09.006"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32319"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000409"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3097"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T14:52:35Z","timestamp":1696603955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/ajmg.a.37117"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37117","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}