What genetic mutation is associated with Campomelic Dysplasia?

What genetic mutation is associated with Campomelic Dysplasia?

• A. SRY gene mutation
• B. SOX9 mutation
• C. 21-Hydroxylase deficiency
• D. Phenylalanine hydroxylase deficiency

Answer: (B)

Campomelic Dysplasia is primarily associated with mutations in the SOX9 gene. This genetic condition is characterized by skeletal malformations, including bowing of the long bones and various other anomalies. SOX9 plays a critical role in the development of cartilage and the differentiation of chondrocytes, which are essential for bone formation. Mutations in the SOX9 gene can lead to the disruption of normal skeletal development, resulting in the phenotypic manifestations of Campomelic Dysplasia. Additionally, SOX9 has a pivotal role in sex determination, and defects in this gene can also lead to disorders of sexual development. The other options listed, such as SRY gene mutations, 21-hydroxylase deficiency, and phenylalanine hydroxylase deficiency, pertain to different genetic disorders and biochemical pathways that do not relate directly to the pathogenesis of Campomelic Dysplasia. Thus, SOX9 mutations are specifically tied to this condition and its associated features, making it the correct answer.

Campomelic Dysplasia is primarily associated with mutations in the SOX9 gene. This genetic condition is characterized by skeletal malformations, including bowing of the long bones and various other anomalies. SOX9 plays a critical role in the development of cartilage and the differentiation of chondrocytes, which are essential for bone formation.

Mutations in the SOX9 gene can lead to the disruption of normal skeletal development, resulting in the phenotypic manifestations of Campomelic Dysplasia. Additionally, SOX9 has a pivotal role in sex determination, and defects in this gene can also lead to disorders of sexual development.

The other options listed, such as SRY gene mutations, 21-hydroxylase deficiency, and phenylalanine hydroxylase deficiency, pertain to different genetic disorders and biochemical pathways that do not relate directly to the pathogenesis of Campomelic Dysplasia. Thus, SOX9 mutations are specifically tied to this condition and its associated features, making it the correct answer.