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Child's Nervous System

Published in:

01-09-2012 | Special Annual Issue

Mouse models of Apert syndrome

Author: Greg Holmes

Published in: Child's Nervous System | Issue 9/2012

Abstract

Introduction

Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert syndrome, particularly the calvarial bones, which begin to fuse during embryonic development, and the brain.

Discussion

Mouse models of both of these two causative mutations and a third rare splice mutation have been created and display many of the phenotypes typical of Apert syndrome. The molecular and cellular mechanisms underlying Apert phenotypes have begun to be elucidated, and proof-of-principle treatment of these phenotypes by chemical inhibitor and gene-based therapies has been demonstrated.

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Title: Mouse models of Apert syndrome
Author: Greg Holmes
Publication date: 01-09-2012
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 9/2012
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-012-1872-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Mouse models of Apert syndrome

Abstract

Introduction

Discussion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Discussion

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