1.
Ophthalmic Genet
; 40(1): 86, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30822236
Assuntos
Síndrome de Down/complicações , Mutação em Linhagem Germinativa , Neoplasias da Retina/etiologia , Proteínas de Ligação a Retinoblastoma/genética , Retinoblastoma/etiologia , Ubiquitina-Proteína Ligases/genética , Pré-Escolar , Síndrome de Down/genética , Humanos , Masculino , Prognóstico , Neoplasias da Retina/patologia , Retinoblastoma/patologia
2.
Am J Med Genet A
; 170(9): 2466-70, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27378064
RESUMO
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.