Mandibular dysostosis without microphthalmia caused by OTX2 deletion

Mandibular dysostosis without microphthalmia caused by OTX2 deletion

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 ...

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Bibliographic Details
Published in:American journal of medical genetics. Part A Vol. 170A; no. 9; pp. 2466 - 2470
Main Authors: Latypova, Xénia, Bordereau, Sylvain, Bleriot, Alice, Pichon, Olivier, Poulain, Damien, Briand, Annaïg, Le Caignec, Cédric, Isidor, Bertrand
Format: Journal Article
Language:English
Published: United States Blackwell Publishing Ltd 01-09-2016
Wiley Subscription Services, Inc
Subjects:
Adult
Chromosome Breakpoints
Chromosomes, Human, Pair 14
Comparative Genomic Hybridization
craniofacial development
dysgnathia
Facies
Female
Gene Deletion
Genetic Association Studies
Heterozygote
Humans
mandibular dysostosis
Mandibulofacial Dysostosis - diagnosis
Mandibulofacial Dysostosis - genetics
Microphthalmos
Otx Transcription Factors - genetics
OTX2 haploinsufficiency
Phenotype
Sequence Deletion
mandibular dysostosis
craniofacial development
dysgnathia
OTX2 haploinsufficiency
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Summary: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.
Bibliography:ark:/67375/WNG-F9PV3LFP-X
ArticleID:AJMGA37837
istex:66A090364CFF9E649625C90AC30559BF9FAB28CA
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ObjectType-Article-1
ObjectType-Feature-2
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37837