Results showed equivalent concentrations of huPMN310 and aducanumab in the circulation and in the brain indicating that the two antibodies possess a similar degree of CNS penetrance
An autosomal dominant model with incomplete penetrance
and variable expression has been proven, but both autosomal recessive and X-linked inheritance have been suggested.
To the Editor: Tuberous sclerosis complex (TSC), a rare autosomal dominant and variable penetrance
, affects about 10 in every 100,000 people.
The phenotypes described here assumes dominant-recessive model with full penetrance
, however any other outcome including non-penetrance
, co-dominance or incomplete dominance etc.
In this disease, which shows high penetrance
and variable expressivity, the "protein patched homolog" (PTCH) gene mutation is held responsible for the etiology (1).
Although it is an autosomal dominant disorder but has less penetrance
TSC, an autosomal dominant trait with variable penetrance
, can adversely affect maternal and fetal outcome.
Importantly, the study combined risks from very different mutations and very different genes into an aggregate estimation of the genetic penetrance
(the likelihood that someone with a mutation will develop the condition).
of BRCA1 and BRCA2 cancers shows 57 and 49 per cent risk respectively for breast cancers, and 40 and 18 per cent for ovarian cancer by age 70 in people who have the mutant gene.
Hailey-Hailey disease is a genodermatosis characterized by incomplete penetrance
of an autosomal dominant disorder with defects in the ATP2C1 gene.
Genetic transmission in familial ALS is usually autosomal dominant with differing degrees of penetrance
The phenotype for HCFP1 family is an asymmetric, mostly bilateral, weakness of facial muscles with a penetrance