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Absolutely! Some genetic conditions have an adult-onset presentation. This means an individual may carry a disease-associated genetic variant for many years without experiencing symptoms.
Here are some important examples:
1. Huntington’s disease
Huntington’s disease is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene.
Although the genetic alteration is present from conception, symptoms commonly develop between 30 and 50 years of age. These may include involuntary movements, behavioural changes, cognitive decline and progressive neurological dysfunction.
2. Hereditary breast and ovarian cancer syndrome
Pathogenic variants in the BRCA1 and BRCA2 genes increase the risk of developing breast, ovarian and certain other cancers.
Individuals carrying these variants are generally healthy at birth. However, their cancer risk increases during adulthood.
3. Inherited cardiomyopathies
Conditions such as hypertrophic cardiomyopathy can result from pathogenic variants in genes involved in cardiac muscle structure, including MYH7 and MYBPC3.
Some individuals develop symptoms during childhood, while others remain asymptomatic until adulthood.
4. Familial Alzheimer’s disease
Rare inherited forms of Alzheimer’s disease can result from pathogenic variants in genes such as APP, PSEN1 and PSEN2. Depending on the genetic alteration, symptoms may develop during adulthood, sometimes much earlier than in typical late-onset Alzheimer’s disease.
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