Mandibular Dysostosis without Microphthalmia Caused byOTX2Deletion

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Mutations inOTX2are mostly identified in patients with anophthalmia/microphthalmia with variable severity. TheOTX2homeobox gene plays a crucial role in craniofacial morphogenesis during early embryo development. We report for the first time a patient with a mandibular dysostosis caused by a 120 kb deletion including the entire coding sequence ofOTX2, identified by array CGH. No ocular malformations were identified after extended ophthalmologic examination. Our data refine the clinical spectrum associated withOTX2mutations and suggests thatOTX2haploinsufficiency should be considered as a possible cause for isolated mandibular dysostosis. © 2016 Wiley Periodicals, Inc.

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