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Mandibular dysostosis without microphthalmia caused by OTX2 deletion
Author(s) -
Latypova Xénia,
Bordereau Sylvain,
Bleriot Alice,
Pichon Olivier,
Poulain Damien,
Briand Annaïg,
Le Caignec Cédric,
Isidor Bertrand
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37837
Subject(s) - microphthalmia , anophthalmia , haploinsufficiency , homeobox , dysostosis , craniofacial , biology , goldenhar syndrome , microphthalmos , genetics , medicine , gene , anatomy , congenital disease , transcription factor , phenotype
Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity. The OTX2 homeobox 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 of OTX2 , identified by array CGH. No ocular malformations were identified after extended ophthalmologic examination. Our data refine the clinical spectrum associated with OTX2 mutations and suggests that OTX2 haploinsufficiency should be considered as a possible cause for isolated mandibular dysostosis. © 2016 Wiley Periodicals, Inc.