{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T19:55:45Z","timestamp":1770234945452,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T00:00:00Z","timestamp":1493683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2017,7,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Nance\u2010Horan syndrome (NHS) is a rare X\u2010linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance\u2010Horan syndrome is caused by mutations in the <jats:italic>NHS<\/jats:italic> gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving <jats:italic>NHS<\/jats:italic> locus have been reported, suggesting a possible pathogenic role of the flanking genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948\u201017.904.576) (GRCh37\/hg19), detected by array\u2010based comparative genomic hybridization in an Italian boy with NHS syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The microdeletion harbors the <jats:italic>NHS<\/jats:italic>, <jats:italic>SCLML1<\/jats:italic>, and <jats:italic>RAI2<\/jats:italic> genes and results in a phenotype consistent with NSH syndrome and developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We compare our case with the previous Xp22.13 microdeletions and discuss the possible pathogenetic role of the flanking genes. Birth Defects Research 109:866\u2013868, 2017. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1032","type":"journal-article","created":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T17:19:23Z","timestamp":1493745563000},"page":"866-868","source":"Crossref","is-referenced-by-count":16,"title":["A novel Xp22.13 microdeletion in Nance\u2010Horan syndrome"],"prefix":"10.1002","volume":"109","author":[{"given":"Andrea","family":"Accogli","sequence":"first","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"},{"name":"Universit\u00e0 degli Studi di Genova  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Traverso","sequence":"additional","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"},{"name":"Universit\u00e0 degli Studi di Genova  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Madia","sequence":"additional","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommaso","family":"Bellini","sequence":"additional","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"},{"name":"Universit\u00e0 degli Studi di Genova  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Stella","family":"Vari","sequence":"additional","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Pinto","sequence":"additional","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3097-0388","authenticated-orcid":false,"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"Istituto G. Gaslini Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/379381"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp206"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810902822021"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-15-0352"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37963"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2015.01.014"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2011.634881"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.121"},{"key":"e_1_2_5_10_1","first-page":"49","article-title":"Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance\u2010Horan syndrome","volume":"305","author":"Mathys R","year":"2007","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0083-6729(06)75010-5"},{"key":"e_1_2_5_12_1","article-title":"The enigmatic meiotic dense body and its newly discovered component, SCML1, are dispensable for fertility and gametogenesis in mice","author":"Papanikos F","year":"2016","journal-title":"Chromosoma"},{"key":"e_1_2_5_13_1","article-title":"Mechanisms of retinoic acid signaling during cardiogenesis","author":"Stefanovic S","year":"2016","journal-title":"Mech Dev"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<305::AID-AJMG11>3.0.CO;2-O"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31572"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5667"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdr2.1032","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:56:45Z","timestamp":1696597005000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.1032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,2]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,7,3]]}},"alternative-id":["10.1002\/bdr2.1032"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.1032","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,2]]}}}