eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

The SRY-box 9 (SOX9) gene, located on chromosome 17, encodes a 509 amino acid polypeptide and functions as a transcription factor critical in embryologic development. The SOX9 sequence is highly conserved across mammals, suggesting important regulatory function. It is known to play a role in bone formation and sexual development. The protein consists of several domains, including a dimerization domain, a DNA-binding domain (HMG), and a C-terminal transactivation domain that activates target genes.