Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus

In this communication, we first examine possible associations between the heterozygous deletion of HOXC10-HOXC9 and congenital vertical talus (CVT). CVT, colloquially referred to as “rocket foot”, is a type of foot deformity, with an estimated prevalence of approximately 1 in 10,000 in live births. However, reports on CVT-related genes have been limited. Here, a 18.7-kb heterozygous deletion, which affected the HOXC10 and HOXC9 genes, was exclusively identified in more than ten CVT-affected patients of a Chinese four-generation family. Furthermore, in a mouse C2C12 cell model edited by epiCRISPR/Cas9 technology, 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. (By Liheng Chen, https://jmg.bmj.com/content/early/2024/01/30/jmg-2023-109656 )

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