Table 2 The genetic and clinical evaluations of eight patients
(Patients) CYP27A1 gene analysis | Cataract Age of surgery | Infantile Diarrhea | Tendon Xanthomas Onset | Osteoporosis | Pes Cavus | Ataxia | Behavioral personality disorder | Low Intelligence | Epilepsy | Atherosclerosis |
|---|---|---|---|---|---|---|---|---|---|---|
(1) c.670_671delAA p.(Lys224ThrfsTer63) | Bilateral (Juvenile) (12y) | + | Bilateral Achilles Tendon (15y) | + | + Bilateral | - | + | + | ||
(2) c.409 C > T p.(Arg137Trp) | Bilateral Achilles+Patellar Tendon+Triceps Tendon (23y) | + | + | + | ||||||
(3) c.409 C > T p.(Arg137Trp) | Bilateral (Late onset) (31y) | Bilateral Achilles+ Bilateral Patellar Tendon (39y) | + | |||||||
(4) c.409 C > T p.(Arg137Trp) | Bilateral Achilles Tendon (25y) | Osteopenia | + | + | ||||||
(5) c.1263 + 4 A > T with c.409 C > T p.(Arg137Trp) | Bilateral (Late onset) (36y) | Bilateral Achilles Tendon (38y) | Osteopenia | + | + | |||||
(6) c.670_671delAA p.(Lys224ThrfsTer63) | Bilateral (Juvenile) (12y) | + | Bilateral Achilles Tendon (29y) | Osteopenia | + Bilateral | + | + | + | + | |
(7) c.670_671delAA p.(Lys224ThrfsTer63) | Bilateral (Juvenile) (12y) | + | Bilateral Achilles Tendon (30y) | Osteopenia | + Bilateral | + | + | + | + | |
(8) c.409 C > T p.(Arg137Trp) | Bilateral Achilles Tendon (41y) | + | + |