Disease

Incidence

Transmission

Gene

Mutations

Ref.

Cystic fibrosis

1/2000 (Europe)

AR

CFTR

many (70% Δ F508)

 3

Sickle cell anemia

up to 3% (locally)

AR

ß-globin

single point mutation

12

Congenital adrenal hyperplasia

1/15000

AR

21-hydroxylase

many

10

Duchenne muscular dystrophy

1/3000 males

XLR

dystrophin

many (2/3 deletions)

13

Fragile X syndrome

1/1200 males

XLR

FMR1

expanding repeat

9

Steinert myotonic dystrophy

1/8500

AD

DM

expanding repeat

9

Familial amyloidotic polyneuropathy type I

up to 3% (locally)

AD

TTR

single point mutation

11