SNP Shot: Genomic Insights

Uncombable hair syndrome (UHS) is a hair condition where the hair is dry, wiry, and resists being combed flat. Onset typically occurs during childhood, usually between infancy and three years old, though it can emerge as late as age 12. Children with UHS often have light-colored hair, often described as blond or silvery, with a noticeable shine. The hair grows outwards from the scalp in many directions, rather than downwards. Despite its unusual appearance, the hair is generally healthy and not prone to breakage, and its growth rate is normal or only slightly reduced. UHS only affects the hair on the scalp.

The condition tends to improve spontaneously over time. By adolescence, individuals with UHS usually find that their hair lies flatter and has a texture that is either normal or close to normal.

Inheritance:

UHS caused by mutations in the PADI3, TGM3, or TCHH genes follows an autosomal recessive inheritance pattern. This means that both copies of the gene in each cell must carry a mutation for the condition to manifest. In this scenario, each parent of an affected individual carries one mutated copy of the gene, but they typically do not exhibit any signs or symptoms of UHS. In other instances, UHS seems to be inherited in an autosomal dominant manner. In this case, only one copy of the altered gene in each cell is enough to cause the condition. These cases typically involve an affected person inheriting the mutation from an affected parent, although the specific gene responsible remains unidentified. Finally, in some cases of UHS, the inheritance pattern is currently not understood.