What gene is associated with Cleidocranial Dysplasia?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Cleidocranial Dysplasia (CCD) is a genetic disorder that primarily affects the development of bones and teeth. The gene most commonly associated with this condition is RUNX2. This gene plays a crucial role in the differentiation of osteoblasts, which are the cells responsible for bone formation. Mutations in RUNX2 disrupt normal skeletal development, leading to the characteristic features seen in CCD, such as delayed closure of the fontanelles, underdeveloped or absent clavicles, and dental anomalies.

The other genes listed are associated with different conditions. For example, SLC26A2 is linked to conditions such as diastrophic dysplasia, FGFR3 is associated with achondroplasia and other forms of skeletal dysplasia, and ALPL is related to hypophosphatasia. None of these genes contribute to the development of Cleidocranial Dysplasia, making RUNX2 the definitive answer for this question.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy