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JOURNAL ARTICLE

FGFR3 mutation causes abnormal membranous ossification in achondroplasia

Federico Di Rocco, Martin Biosse Duplan, Yann Heuzé, Nabil Kaci, Davide Komla-Ebri, Arnold Munnich, Emilie Mugniery, Catherine Benoist-Lasselin, Laurence Legeai-Mallet
Human Molecular Genetics 2014 June 1, 23 (11): 2914-25
24419316
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification are unknown. Fgfr3(Y367C/+) mice mimicking ACH and craniofacial analysis of patients with ACH and FGFR3-related craniosynostoses provide an opportunity to address this issue. Studying the calvaria and skull base, we observed abnormal cartilage and premature fusion of the synchondroses leading to modifications of foramen magnum shape and size in Fgfr3(Y367C/+) mice, ACH and FGFR3-related craniosynostoses patients. Partial premature fusion of the coronal sutures and non-ossified gaps in frontal bones were also present in Fgfr3(Y367C/+) mice and ACH patients. Our data provide strong support that not only endochondral ossification but also membranous ossification is severely affected in ACH. Demonstration of the impact of FGFR3 mutations on craniofacial development should initiate novel pharmacological and surgical therapeutic approaches.

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