What is the gene product associated with Incontinentia pigmenti?

• A. Metallopeptidase
• B. Methyl-CpG-binding protein-2
• C. NF-B essential modulator
• D. Unknown

Answer: (C)

Incontinentia pigmenti is a genetic disorder that is primarily associated with mutations in the IKBKG gene, which encodes for a protein known as the NF-kB essential modulator (NEMO). This protein plays a critical role in the NF-kB signaling pathway, which is essential for the immune response, cell survival, and the regulation of inflammation. Mutations in the IKBKG gene lead to the characteristic symptoms of Incontinentia pigmenti, such as skin lesions, hair abnormalities, and dental issues.

This option is correct because it directly relates to the underlying genetic cause of Incontinentia pigmenti. Understanding the role of NEMO in cellular signaling helps clarify how defects in this gene can lead to the clinical features observed in patients with this condition. Other choices are not directly linked to Incontinentia pigmenti, and therefore, do not pertain to the gene product associated with the disorder.