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Article Dans Une Revue Ophthalmic genetics Année : 2014

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Julie Plaisancié
  • Fonction : Auteur
Corinne Collet
  • Fonction : Auteur
Valerie Pelletier
  • Fonction : Auteur
Yaumara Perdomo
  • Fonction : Auteur
Fouzia Studer
  • Fonction : Auteur
Melanie Fradin
  • Fonction : Auteur
  • PersonId : 1103127
Elise Schaefer
  • Fonction : Auteur
  • PersonId : 1289500
Elisabeth Flori
  • Fonction : Auteur
  • PersonId : 1233905
Helene Dollfus
  • Fonction : Auteur
  • PersonId : 938002

Résumé

BACKGROUND: MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina. MATERIALS AND METHODS: Herein we report the case of a child with bicoronal synostosis and cutaneous syndactylies, who presented iridal and chorioretinal colobomas. Due to the craniofacial features that were prominent in the clinical picture, the genes involved in craniosynostosis were explored. RESULTS: The patient disclosed an intragenic duplication of the entire MSX2 gene whereas no mutation was identified in any major genes known to be involved in craniosynostosis. CONCLUSION: This is the first report of an eye development defect due to an increase in the MSX2 copy number in a human being. The implication of this gene in eye development has already been shown in several animal models. Indeed, overexpression of the Msx2 gene in a mouse model resulted also in optic nerve aplasia and microphthalmia. This report expands the phenotypic spectrum of the MSX2 mutations impacting early ocular development knowledge.

Domaines

Génétique
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Dates et versions

hal-04252605 , version 1 (20-10-2023)

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Citer

Julie Plaisancié, Corinne Collet, Valerie Pelletier, Yaumara Perdomo, Fouzia Studer, et al.. MSX2 Gene Duplication in a Patient with Eye Development Defects.. Ophthalmic genetics, 2014, 36 (4), pp.353-358. ⟨10.3109/13816810.2014.886270⟩. ⟨hal-04252605⟩
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