GENETICS OF CYSTINOSIS
C = normal gene / non-cystinosis gene
c = recessive gene /cystinosis gene

Cc = carrier / heterozygote / no cystinosis
CC = non carrier / no cystinosis
cc = cystinosis
This is the pattern of autosomal recessive inheritance.
Carriers have normal
health. If two people who are carriers for the cystinosis gene have a child there is a :
- 1 in 4 chance the child will have cystinosis (cc)
- 2 in 4 chance the child will not have cystinosis, but will be a carrier (Cc,
cC)
- 1 in 4 chance the child will not have cystinosis or be a carrier (CC)
- 2 in 3 chance that an unaffected/non-manifesting child will be a
carrier (Cc+cC
/ (
Cc+cC+CC))
Cystinosis Central | General Info.