CHARGE syndrome is a genetic disorder with autosomal dominance
involved in the mutated gene CHD7 on chromosome 8.
ANFH is a debilitating disease that often leads to disability in adults, genetic studies have indicated that it can be inherited through autosomal dominance
In one study, 34% of first-degree relatives of patients with HS also had the disease, (10) demonstrating autosomal dominance
with variable penetrance.
Previous reports indicate that mutations in the human enamlin gene (ENAM) cause hypoplastic AI through autosomal dominance
inheritance patterns and patients may also exhibit an anterior open bite.
Family trees appeared to back that up: The inheritance didn't fit the standard Mendelian pattern of autosomal dominance
, in which one gene dominates its "recessive" partner to cause disease, Chakravarti notes.