title: Mandibular dysostosis without microphthalmia caused by OTX2 deletion.
abstract: 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.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors.forename: Xénia
authors.initials: X
authors.lastname: Latypova
authors.affiliation: Service d'Ophtalmologie, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Bordereau
authors.affiliation: Service d'Ophtalmologie, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Bleriot
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Pichon
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors.forename: Damien
authors.initials: D
authors.lastname: Poulain
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors.forename: Annaïg
authors.initials: A
authors.lastname: Briand
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.|INSERM, Laboratoire de Physiopathologie de la Résorption Osseuse et Thérapie des Tumeurs Osseuses Primitives, Nantes, France.
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.affiliation: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.|INSERM, Laboratoire de Physiopathologie de la Résorption Osseuse et Thérapie des Tumeurs Osseuses Primitives, Nantes, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
mesh_terms: D000328:Adult; D056905:Chromosome Breakpoints; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics*; D008850:Microphthalmos; D051857:Otx Transcription Factors / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D051857:Otx Transcription Factors
keywords: OTX2 haploinsufficiency; craniofacial development; dysgnathia; mandibular dysostosis