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Herein, we report a 4\u2010year\u2010old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, developmental delay, and an apparently balanced de novo paracentric chromosome 5 inversion, inv(5)(q15q33.2). Molecular cytogenetic analysis of the inversion revealed the presence of microdeletions of approximately 400\u2013500 kb at or near both breakpoints. The 5q15 microdeletion completely removes the nuclear receptor <jats:italic>NR2F1<\/jats:italic> (<jats:italic>COUP\u2010TFI<\/jats:italic>) from the inverted chromosome 5. We propose haploinsufficiency of <jats:italic>NR2F1<\/jats:italic> to be the cause of the patient's deafness and many of the other associated anomalies based on striking similarity with the <jats:italic>Nr2f1<\/jats:italic> null mouse. Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32764","type":"journal-article","created":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T19:04:07Z","timestamp":1239131047000},"page":"931-938","source":"Crossref","is-referenced-by-count":48,"title":["<i>NR2F1<\/i> deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness"],"prefix":"10.1002","volume":"149A","author":[{"given":"Kerry K.","family":"Brown","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Matos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia E.","family":"Kimonis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia C.","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80081-V"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000117850.04443.C9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.012"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6193"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052787"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0398-266"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02539.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024141"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01867.x"},{"key":"e_1_2_6_13_1","first-page":"565","article-title":"Chromosome 5q\u2010syndrome\u2010ENT pathologies","volume":"81","author":"Harreus UA","year":"2002","journal-title":"Laryngorhinootologie"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.01.011"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/85845"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(94)90098-1"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-133X(01)00019-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.9.5604"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-0760(95)00097-J"},{"key":"e_1_2_6_20_1","unstructured":"PereiraFA XuJ PriceSD ShopeCD BrownellWE LysakowskiA TsaiM\u2010J.2001.Vestibular and auditory system defects in COUP\u2010TFI mutants. 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