Causes of Xeroderma Pigmentosum
Scientists have identified a number of genes that are associated with xeroderma pigmentosum. Xeroderma pigmentosum is categorized into eight different subtypes, and each subtype is linked to a specific mutation in a distinct gene. These genetic mutations disrupt the normal functioning of the genes or prevent them from functioning altogether. In every subtype, the gene’s ability to function is impaired due to exposure to UV light.
Inheritance of Xeroderma Pigmentosum
Xeroderma pigmentosum is typically inherited in an autosomal recessive manner. This means that the condition manifests when an individual receives two altered genes, one from each parent. In cases where only one altered gene is inherited, the person becomes a carrier and typically remains asymptomatic. However, if two carriers of the altered gene have a child together, there is a 25% chance that the child will develop xeroderma pigmentosum. This highlights the importance of understanding the inheritance pattern and its implications for the occurrence of this condition.