Genes involved in limb patterning are sensitive to the gene dosage effect.1 In this brief communication, we examine the possible associations between the heterozygous deletion of HOXC10-HOXC9 and congenital vertical talus (CVT). In 2016, Alvarado et al2 reported the associations between deletions of 5′ HOXC genes (HOXC12, HOXC13) and CVT; however, subsequent reports on CVT-related genes have been limited. In this study, a novel 18.7 kb heterozygous deletion, which affected the HOXC10 and HOXC9 genes, was exclusively identified in CVT-affected patients. Additionally, in a mouse C2C12 cell model, we found that this deletion impaired cell proliferation and differentiation. Our findings contribute to existing knowledge on CVT-related genes, offering possibilities for genetic diagnosis of CVT.
CVT is a type of foot deformity, with an estimated prevalence of approximately 1 in 10 000 live births.3 It is characterised by irreducible dislocation of the talus scaphoid joint, which leads…
