is autosomal dominant disorder and characterised by long QT syndrome
with the risk of sudden death.
Autosomal dominant disorders are caused by a mutation
in an autosomal gene. In order to have an autosomal dominant disorder, only one copy of the gene (inherited from either parent) needs to contain a disease-causing mutation. If an individual has a parent with one mutant copy, that individual has a 50% chance of inheriting the mutant gene.
Penetrance is another factor and determines the proportion of individuals carrying a particular variation of a gene that expresses. Not every person who inherits the mutated gene will show symptoms of the disease. The degree of penetrance varies between diseases and cannot be predicted by genetic testing
is characterized by long QT syndrome and webbing of the skin between some fingers and or toes and autosomal dominant.
Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Hope I have answered your query. Let me know if I can assist you further.
Dr. Tushar Kanti Biswas,
Internal Medicine Specialist