SNP Shot: Genomic Insights

UV-sensitive syndrome describes a condition where individuals exhibit heightened sensitivity to ultraviolet (UV) radiation present in sunlight. Even minimal sun exposure can lead to sunburn in those affected. Furthermore, repeated sun exposure can cause freckles, skin dryness, or alterations in skin color (pigmentation) in sun-exposed areas. Some individuals with this syndrome may also develop telangiectasia, which are small groups of enlarged blood vessels visible just beneath the skin's surface, often appearing on the cheeks and nose. Importantly, while UV exposure is a risk factor for skin cancers, individuals with UV-sensitive syndrome do not have a higher likelihood of developing these cancers compared to the general population.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the relevant gene within each cell must contain mutations for the condition to manifest. Individuals with autosomal recessive disorders inherit one mutated copy of the gene from each parent, who are typically carriers of the mutation but do not display symptoms of the condition themselves.