Other ancestors might be undiagnosed due to the incomplete penetrance or variable expressivity.
2.
This variable expressivity results in different individuals with the same mutation varying considerably in the severity of their observed particular trait.
3.
Given the variable expressivity of the disease, there may be other genetic or environmental modifiers present beyond the original " JAG1 " mutation.
4.
BRA appears to have a predominantly genetic etiology and many cases represent the most severe manifestation of an autosomal dominant condition with incomplete penetrance and variable expressivity.
5.
Although fully penetrant, since the syndrome has variable expressivity, one generation may have a mild expression of the syndrome, while the next may be profoundly affected.
6.
This variable expressivity, even within the same family, can be striking and may be explained by differences in lifestyle, exposure to pathogens, treatment efficacy, or other genetic modifiers.
7.
Patients also suffer from variable expressivity, even within the same family, can be striking and may be explained by differences in lifestyle, exposure to pathogens, treatment efficacy, or other genetic modifiers.
8.
As stated by researchers at the University of Washington, Muenke syndrome is inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity . Prenatal diagnosis for pregnancies at increased risk is possible if the defining mutation has been identified in the family ( Agochukwu et . al . 2006 ).
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