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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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MSX2 Gene Duplication in a Patient with Eye Development Defects.

Julie Plaisancié¹, Corinne Collet², Valerie Pelletier¹

¹a Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil , Strasbourg , France .

Ophthalmic Genetics

|March 27, 2014

Summary

MSX2 gene duplication in a child caused craniosynostosis and eye defects, expanding knowledge of MSX2

Keywords:

Boston-type craniosynostosis MSX2 coloboma eye development

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Area of Science:

Genetics
Developmental Biology
Ophthalmology

Background:

Mutations in the MSX2 gene are a rare cause of craniosynostosis.
Gain-of-function mutations are associated with Boston-type craniosynostosis, limb defects, and refractive errors.
Loss-of-function mutations can lead to primary osseous defects like enlarged parietal foramina.

Observation:

A child presented with bicoronal synostosis, cutaneous syndactylies, and iridial and chorioretinal colobomas.
Craniofacial features prompted an investigation into genes associated with craniosynostosis.

Findings:

The patient had an intragenic duplication of the entire MSX2 gene.
No mutations were found in other major craniosynostosis-associated genes.

Implications:

This is the first report of an eye development defect linked to increased MSX2 copy number in humans.
MSX2's role in eye development is supported by animal models showing optic nerve aplasia and microphthalmia upon Msx2 overexpression.
This expands the known phenotypic spectrum of MSX2 mutations affecting early ocular development.