Achondroplasia and Other FGFR3-related Short Limbed Dysplasia: Molecular Heterogeneity and Therapeutic Approaches

Achondroplasia and Other FGFR3-related Short Limbed Dysplasia: Molecular Heterogeneity and Therapeutic Approaches


This book discusses achondroplasia and other FGFR3-related short limb dysplasias, their molecular heterogeneity, and therapeutic approaches. Achondroplasia is dominantly inherited and one of the most common genetic causes of non-lethal short limb skeletal dysplasia due to mutations in FGFR3. Other FGFR3-related short limb dysplasias include hypochondroplasia, thanatophoric dysplasia (type I and type II), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Suppression of proliferation and differentiation of chondrocytes in the growth plates (as a result of a specific gain-of-function mutation in the transmembrane domain of FGFR3) is the underlying mechanism. Most of the clinical and radiological features of achondroplasia are either direct or indirect consequences of this suppression of endochondral bone growth due to overexpression of FGFR3 signaling. Downstream C-type natriuretic peptide (CNP) antagonism to FGFR3 activity can be used as a potential therapeutic strategy in achondroplasia. A new era has been entered with the phase 2 trial of CNP analogue BMN 111 showing promising results in children with achondroplasia. This has demonstrated that curing patients with skeletal disorders is not a dream anymore


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