SNP Shot: Genomic Insights

Palmoplantar keratoderma with deafness is a condition marked by both skin problems and hearing impairment. Individuals with this disorder typically experience thickened skin on their palms and soles (palmoplantar keratoderma), starting in childhood. The severity of hearing loss can range from mild to profound. It begins early in life and progressively worsens, particularly affecting the ability to hear high-frequency sounds.

The symptoms of this condition can differ significantly, even among family members. Some may only exhibit skin issues, while others may only experience hearing loss.

Inheritance:

Palmoplantar keratoderma with deafness can be passed down in different ways. If caused by changes in the GJB2 gene, it follows an autosomal dominant inheritance pattern. This means that only one copy of the altered gene in each cell is enough to cause the condition. In many instances, an affected person inherits the gene change from one parent who also has the condition. However, new gene changes can also occur, resulting in cases where there is no family history of the disorder. When the condition is caused by changes in the MT-TS1 gene, it follows a mitochondrial inheritance pattern, also known as maternal inheritance. This applies to genes within mitochondrial DNA (mtDNA). Because only egg cells contribute mitochondria to the developing embryo, children can only inherit mtDNA mutations from their mothers. These conditions can appear in every generation and affect both males and females, but fathers cannot pass on mtDNA-related traits to their children.