Circulating bone biomarkers as indicators of growth in children with achondroplasia

Achondroplasia is a hereditary condition caused by a mutation in the FGFR3 receptor leading to impaired growth in children. In a longitudinal study we followed the growth of children with achondroplasia aged from two to fourteen years with regular blood sampling for the analysis of biomarker related to bone growth. The average Annualized Growth Velocity (AGV) in Achondroplasia male children was calculated as 4.9 cm/year and 4.6 cm/year in female children. This data show that children with achondroplasia have a decrease of around five standard deviations of growth velocity versus average stature children. The analysis of circulating bone related biomarkers CXM, P1NP, CTX-1 and NT-proCNP showed a small increase biomarker concentration for CXM and NT-proCNP in serum over time whereas levels of P1NP and CTX-1 were relatively stable during the observation period. Moreover, the data show that there is a significant association of Annualized Growth Velocity and sitting height with CXM levels in serum. The data set gives a longitudinal overview of several circulating biomarkers relevant to bone growth in children with achondroplasia and establish their association to anthropomorphic measurement. • First longitudinal investigation of the achondroplasia children within the context of the bone biomarkers • Biomarkers relevant to bone growth measurements with fully validated bioassays • CXM levels are significantly associated with annual growth velocity and sitting height. • Measured circulating bone growth markers suggest the existence of a pubertal spurt in achondroplasia adolescents.