Genetics Cystinosis

cystinosis has autosomal recessive pattern of inheritance.

cystinosis occurs due mutation in gene ctns, located on chromosome 17, codes cystinosin, lysosomal cystine transporter. symptoms first seen @ 3 18 months of age profound polyuria (excessive urination), followed poor growth, photophobia, , kidney failure age 6 years in nephropathic form.

all forms of cystinosis (nephropathic, juvenile , ocular) autosomal recessive, means trait located on autosomal gene, , individual inherits 2 copies of gene – 1 both parents – have disorder. there 25% risk of having child disorder, when both parents carriers of autosomal recessive trait.

cystinosis affects approximately 1 in 100,000 200,000 newborns. , there around 2,000 known individuals cystinosis in world. incidence higher in province of brittany, france, disorder affects 1 in 26,000 individuals.