{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:16:22Z","timestamp":1761718582737,"version":"3.37.3"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,9]],"date-time":"2017-06-09T00:00:00Z","timestamp":1496966400000},"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":[[2017,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing <jats:italic>OTX1<\/jats:italic>, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include <jats:italic>OTX1<\/jats:italic>. Here, we report three further patients carrying proximal 2p14 microdeletions not including <jats:italic>OTX1<\/jats:italic> and one patient carrying a more distal 2p14p15 microdeletion including this gene, providing new insights into the associated phenotypic spectrum. First, our study and a review of the literature showed that 3\/4 patients carrying proximal 2p14 microdeletions had sensorineural hearing loss, suggesting the presence of a previously unreported deafness\u2010causing gene in this chromosomal region. Second, one patient developed a progressive cardiomyopathy, suggesting that a cardiac follow\u2010up should be systematically warranted even in the absence of congenital heart disease. We speculate that <jats:italic>ACTR2<\/jats:italic> and <jats:italic>MEIS1<\/jats:italic> might respectively play a role in the pathogenesis of the observed deafness and cardiomyopathy. Third, we observed other previously unreported features such as glaucoma, retinopathy, and mild midline abnormalities including short corpus callosum, hypospadias and anteriorly placed anus. Finally, the patient carrying a 2p14p15 deletion including <jats:italic>OTX1<\/jats:italic> had normal kidneys and genitalia, thus confirming that <jats:italic>OTX1<\/jats:italic> haploinsufficiency is not invariably associated with genitourinary defects. In conclusion, our study contributes significantly to delineate the phenotypic spectrum of 2p14 microdeletions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38307","type":"journal-article","created":{"date-parts":[[2017,6,9]],"date-time":"2017-06-09T16:06:40Z","timestamp":1497024400000},"page":"2268-2274","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions"],"prefix":"10.1002","volume":"173","author":[{"given":"Marie\u2010Laure","family":"Mathieu","sequence":"first","affiliation":[{"name":"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Demily","sequence":"additional","affiliation":[{"name":"Centre de d\u00e9pistage et de prises en charge des troubles psychiatriques d'origine g\u00e9n\u00e9tique CH le Vinatier et UMR 5229 (CNRS et Universit\u00e9 Lyon 1) Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Chantot\u2010Bastaraud","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2010H\u00f4pitaux de Paris, Groupe Hospitalier Universitaire de l'Est Parisien\u2014H\u00f4pital Armand Trousseau D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2010H\u00f4pitaux de Paris, Groupe Hospitalier Universitaire de l'Est Parisien\u2014H\u00f4pital Armand Trousseau D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Paris France"},{"name":"Assistance Publique\u2010H\u00f4pitaux de Paris, GHUEP, H\u00f4pital Armand Trousseau Centre de R\u00e9f\u00e9rence \u2018Malformations et maladies cong\u00e9nitales du cervelet\u2019 Paris 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