When inherited, it is transmitted in an autosomal dominant pattern with variable expressivity and incomplete penetrance
. Syndactyly is clinically classified according to (a) the degree of webbing along the length of the digit (complete versus incomplete) and (b) presence or absence of a bone union or other skeletal abnormality (simple versus complex) (Flatt, 1977).
Brugada Syndrome is an arrhythmic genetic syndrome inherited as autosomal dominant with incomplete penetrance
and variable expressivity.
"It's autosomal dominant and has incomplete penetrance
and variable expression," she said.
Hailey-Hailey disease is a genodermatosis characterized by incomplete penetrance
of an autosomal dominant disorder with defects in the ATP2C1 gene.
This suggests that the mutation was inherited from the mother and not the father The sequencing of UBQLN2-S3401 in this case indicated the presence of an X-linked ALS/FTD with incomplete penetrance
in this family (Figure l).
(1) Previous studies have shown incomplete penetrance
in carriers of MCP and CFH mutations.
This complicates interpretation of results regarding incomplete penetrance
or variable expressivity.
Family history has been observed in 10% of moyamoya patients (9) and familial moyamoya disease may be autosomal dominant with incomplete penetrance
that depends on age and genomic imprinting factors (10).
Inheritance of the condition occurs via an autosomal dominant mode of transmission with incomplete penetrance
A simple autosomal recessive and dominant gene with incomplete penetrance
have been reported to be linked with hydrocephalus in cattle.
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.