In a child with a CBFA1 gene mutation, which cell type is primarily affected?

The CBFA1 gene, also known as runt-related transcription factor 2 (RUNX2), plays a crucial role in the differentiation of osteoblasts, which are the cells responsible for bone formation. Specifically, CBFA1 is essential for the regulation of genes involved in osteoblast development and function.

In a child with a mutation in the CBFA1 gene, the primary cell type that would be affected is osteoblasts, as the mutation disrupts the normal signaling and transcriptional activity necessary for osteoblast differentiation. This can lead to conditions such as osteodystrophy or problems in bone mineralization, as osteoblasts are not properly functioning to produce bone matrix.

The other cell types listed, such as chondroblasts and chondrocytes (related to cartilage formation), as well as osteoclasts (which are involved in bone resorption), do not directly relate to the function of the CBFA1 gene. Consequently, the impact of this gene mutation is specifically on osteoblasts, affirming the importance of CBFA1 in osteogenesis and skeletal development.