CHARGE syndrome is a genetic disorder with autosomal dominance
involved in the mutated gene CHD7 on chromosome 8.1 The abbreviation "CHARGE" characterizes the association of coloboma, heart anomalies, choanal atresia, and retardation of growth, genital and ear anomalies.1
ANFH is a debilitating disease that often leads to disability in adults, genetic studies have indicated that it can be inherited through autosomal dominance
(AD).[sup] The phenotype is characterized by early onset of ANFH, groin pain, and generalized osteoporosis.
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.
(1) It can be either inherited (incomplete autosomal dominance
) or acquired.
In male offspring, this comparison was a direct test of autosomal dominance
; in females, it also included the X chromosome.
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.