What is the gene product associated with Aniridia?

• A. Fibroblast growth factor receptor-3
• B. Pax6 transcription factor
• C. Fibrillin-1
• D. Huntingtin

Answer: (B)

Aniridia is a developmental disorder characterized primarily by the absence of the iris in the eye, and it is closely associated with mutations in the Pax6 gene. Pax6 encodes a transcription factor that plays a critical role in eye development and the formation of various structures during embryogenesis, including the lens, cornea, and retina. The function of Pax6 is vital for the proper differentiation and proliferation of ocular tissues. Mutations in this gene can lead to the various phenotypic presentations of Aniridia, making it the gene product directly linked to this condition.

The other options listed, while they are associated with different genetic disorders or functions, do not relate directly to Aniridia. Fibroblast growth factor receptor-3 (FGFR3) is involved in bone development and growth regulation, and mutations in this gene are associated with conditions like achondroplasia. Fibrillin-1 is a component of connective tissue, and mutations in this gene are associated with Marfan syndrome, which affects connective tissue in various systems of the body. Huntingtin is the protein encoded by the HTT gene, and its mutations are related to Huntington's disease, which affects the nervous system and is not linked to eye development. Thus, the identification of