Table 1 Clinical features and genetics profiles of patients with cystinosis
From: Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Family | Patients | origin | Consanguinity of parents/degree | Age of diagnosis (Yr/Mo) | Age (Yr/Mo) | Corneal crystal | Retinal deposits | Mutations | polymorphisms | Cystinosis subtypes | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | P1 | Tunis | 1 Yr | not analyzed | not analyzed | 20,327 bp del | none | infantile | [7] | ||
2 | P2 | Kondar; Sousse | second degree | 1 Yr | 10 Yr | Anterior stroma and posterior stroma in the periphery | No marked | p.G308R | rs161400H | infantile | |
3 | P3 | Kairouan | second degree | 1 Yr | 8 Yr | Anterior stroma | diffuse | p.G258fs | none | infantile | |
4 | P4 | Tunis | second degree | 1 Yr | 6 Yr | not analyzed | not analyzed | p.Q88K | rs161400H; rs156770260h; rrs1179007761h; rs459613H | infantile | This report |
5 | P5 | Tunis | 1 Yr | not analyzed | not analyzed | c.681 + 7delC | rs161400H; IVS10 + 34 C > AaH | This report | |||
6 | P6 | Malloulich; Mahdia | second degree | 3 Yr s | 5 Yr | Anterior stroma | Diffuse with retinal atrophy | C .829dup | rs752919200; rs459613H; rs467277H, rs1450802529h | infantile | [9] |
7 | P7 | Malloulich; Mahdia | second degree | 1 Yr | 8 Yr | Anterior stroma | Diffuse with retinal atrophy | C .829dup | Not analyzed | infantile | [9] |
8 | P8 | Sekhira; Sfax | Unrelated parents | 2 Yr | 7 Yr 9 Mo | not analyzed | not analyzed | p.S139Y | rs5387504H; rs1323098109h; rs16400H; rs985161402h rs1192394364, rs7469222242; rs459613, rs222753 | infantile | This report |