Mutation Status

Patients

Intra-Leukocyte Cystine Value at Diagnosis

(nmol1/2cystine/mg protein)

Presentation Form of Cystinosis

57-kb deletion/57-kb deletion

(N = 5)

[2.8 - 8.0]

Infantile Nephropathic form

57-kb deletion/Q128X

(N = 2)

[1.5 and 5.1]

Infantile Nephropathic form

57-kb deletion/p.T7FfsX7

(N = 1)

[7.3]

Infantile Nephropathic form

p.S139F/p.S139F

(N = 1)

[1.7]

Juvenile (late) Nephropathic form

57-kb deletion/S139F

(N = 2)

[2.2 and 3.7]

Juvenile Nephropathic form