Low penetrance makes it difficult to differentiate between environmental and genetics.
The term "penetrance" describes the percentage of persons who have a specific genetic variant (or gene mutation) and show symptoms of a genetic illness. The illness is said to have low (or incomplete) penetrance if some individuals with the variant do not manifest symptoms of the disorder. The type of mutation's effect could be the cause of the low penetrance. In the same gene, certain mutations of a given illness may have complete penetrance while others have partial or extremely low penetrance. The human bone condition osteogenesis imperfecta is a particular illustration of incomplete penetrance (OI). One of the two genes that make type 1 collagen, COL1A1 or COL1A2, has a dominant mutation in the majority of individuals with this low penetrance. condition.
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