1) Other family members were not involved in this case and it might be due to autosomal recessive inheritance or incomplete penetrance
and variable expression in parents.
The abnormal mitochondrial gene is maternally inherited with incomplete penetrance
, as only 50% of males with the LHON mitochondrial mutation present with the disorder.
In addition, evaluating variants of incomplete penetrance
requires even larger data sets for statistical significance.
The deformity is usually sporadic but may be inherited as an autosomal dominant trait with incomplete penetrance
with 2:1 female to male ratio.
It is a matter of a sporadic disorder, though some authors suggest an autosomal dominant inheritance in some cases, with an incomplete penetrance
and variable expressivity.
Half of the cases have a family history, whereas spontaneous mutation or incomplete penetrance
is responsible for the other half.
Each child has a 50% risk of inheriting the predisposing mutation (not everyone with the mutation will develop cancer because of incomplete penetrance
and gender-related expression).
This appeared to be transmitted as an autosomal dominant characteristic, with variable expression and incomplete penetrance
Von Hippel-Lindau disease is an autosomal dominant disorder that shows an incomplete penetrance
(the gene is inherited, but not always expressed).
The incomplete penetrance
and the male propensity clearly indicate that the mtDNA mutation is not the only determinant for disease expression.
LRRK2 has been reported to have incomplete penetrance
and is reported in one study to be highly age dependant.
Familial benign pemphigus is a chronic autosomal dominant disorder with incomplete penetrance
, which manifests clinically as vesicles and erythematous plaques with overlying crusts, which typically occur in the genital area, as well as the chest, neck, and axillary areas.