AXIN1 mutations cause craniometadiaphyseal osteosclerosis with hip dysplasia
A new study published in the American Journal of Human Genetics identified three bi-allelic variants in the gene coding for AXIN1 (a central component of the β-catenin destruction complex), within 7 individuals (from 4 families) who express macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings included hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. The study suggests that AXIN1 coordinates the action of osteoblasts and osteoclasts, and that tankyrase inhibitors can attenuate the effects of AXIN1 hypomorphic variants.
- Am J Hum Genet . 2023 Sep 7;110(9):1470-1481