Table 1.
demographic, molecular and clinical features of the FD patients enrolled in the study
| Gender | Mutation | Age of onset (years) | Clinical onset | Clinical involvement at last follow-up | |
|---|---|---|---|---|---|
| 1 | F | c.337T > C p.Phe113Leu | 33 | – | – |
| 2 | F | c.337T > C p.Phe113Leu | 27 | – | – |
| 3 | M | c.337T > C p.Phe113Leu | 62 | Myocardial infarction | HCM, Arrhythmia, Myocardial infarction |
| 4 | M | deletion exons 3, 4 | 9 | Acroparesthesia | Acroparesthesia, HCM |
| 5 | M | c.337T > C p.Phe113Leu | 62 | Arrhythmia | Arrhythmia, HCM, Proteinuria, VBD |
| 6 | F | deletion exons 3, 4 | 50 | Acroparesthesia | Acroparesthesia |
| 7 | M | c.818T > C p.Phe273Ser | 22 | Acroparesthesia | Acroparesthesia, HCM, Arrhythmia, Proteinuria, Stroke, VBD |
| 8 | F | c.337 T > C p.Phe113Leu | 40 | Stroke | Stroke, Proteinuria |
| 9 | F | c.550T > A | 39 | HCM | HCM, Stroke |
| 10 | F | IVS2-76_80 del15; IVS 4-16 A > G; IVS 6-22 G > T | 30 | Acroparesthesia | Acroparesthesia, Stroke |
| 11 | F | .-10 G > T, IVS 6-22 C > T; IVS 6-51_54 del14, g.9151 C > T | 32 | Acroparesthesia | Acroparesthesia, Proteinuria, Stroke, GI disorders |
| 12 | M | .-10 C > T; IVS 2-76_80 del 5; IVS 4-16 A > G; IVS 6-22 C > T | 4 | GI disorders | GI disorders, Acroparesthesia |
| 13 | F | .- 30 G > A | 30 | Acroparesthesia | Acroparesthesia, Stroke, GI disorders |
| 14 | F | .-10 C > T; IVS 2-76_80 del 5; IVS 4-16 A > G; IVS 6-22 C > T | 35 | Stroke | Stroke, Acroparesthesia |
| 15 | F | c.547 G > A p.G183S | 17 | Acroparesthesia | Acroparesthesia, Proteinuria |
| 16 | M | c.614delC | 29 | HCM | HCM, Acroparesthesia |
| 17 | F | c.614delC | 12 | Acroparesthesia | Acroparesthesia, Stroke, HCM |
| 18 | F | .-10 C > T; IVS 2-76_80 del 5; IVS 4-16 A > G; IVS 6-22 C > T | 30 | Acroparesthesia | Acroparesthesia |
| 19 | M | .-10 C > T; IVS 2-76_80 del 5; IVS 4-16 A > G; IVS 6-22 C > T | 10 | GI disorders | GI disorders, Acroparesthesia, Proteinuria |
| 20 | F | c.547 G > A p.G183S | 22 | – | – |
| 21 | M | c.337 T > C p.Phe113Leu | 40 | Proteinuria | Proteinuria, HCM |
| 22 | F | c.1146C > A; p.C382X | 12 | Proteinuria | Proteinuria |
| 23 | F | p.Tyr222Asp | 49 | Proteinuria | Proteinuria, Arrhythmia, GI disorders |
| 24 | M | c.640-859C > T | 32 | HCM | HCM, Arrhythmia, Proteinuria, VBD, GI disorders |
| 25 | F | D313Y | 31 | VBD | VBD, GI disorders |
| 26 | F | p.Ala377Asp | 32 | Acroparesthesia | Acroparesthesia, Arrhythmia, Proteinuria |
| 27 | F | c.1146C > A; p.C382X | 30 | Acroparesthesia | Acroparesthesia, TIA, VBD, GI disorders |
| 28 | F | c.640-859C > T | 52 | Proteinuria | Proteinuria, HCM, Arrhythmia, VBD |
| 29 | F | p.Tyr222Asp | 13 | Acroparesthesia | Acroparesthesia, VBD, GI disorders |
| 30 | F | D313Y | 36 | cSVD | cSVD, VBD, Proteinuria |
| 31 | F |
p.Ala143Thr p.Leu394Pro |
41 | – | – |
| 32 | F |
p.Ala143Thr p.Leu394Pro |
41 | Stroke | Stroke |
| 33 | M | c.818T > C p.Phe273Ser | 62 | HCM | HCM, Arrhythmia, Proteinuria, cSVD, GI disorders |
| 34 | M | N215S | 64 | HCM | HCM, Arrhythmia |
| 35 | F | c.334C > T p.Arg112Cys | 62 | Proteinuria | Proteinuria, HCM, Arrhythmia, cSVD, VBD |
| 36 | F | c.334C > T p.Arg112Cys | 70 | Arrhythmia | Arrhythmia, HCM, cSVD, VBD |
| 37 | M | c.334C > T p.Arg112Cys | 37 | Proteinuria | Proteinuria, HCM, cSVD, VBD, Acroparesthesia |
| 38 | F | c.334C > T p.Arg112Cys | 33 | Acroparesthesia | Acroparesthesia |
| 39 | M | p.Cys63Tyr | 46 | Acroparesthesia | Acroparesthesia, HCM, Arrhythmia, CKD, Stroke |
| 40 | F | p.Arg118Cys | 49 | – | – |
| 41 | M | p.Arg118Cys | 18 | HCM | HCM |
| 42 | F | c.97G > T p.Asp33Tyr | 51 | GI disorders | GI disorders, HCM |
| 43 | M | c.851T > C p.Met284Thr | 34 | Proteinuria | Proteinuria, HCM, Arrhythmia, CKD |
| 44 | F | c.113delG | 6 | Acroparesthesia | Acroparesthesia, Proteinuria, TIA |
| 45 | F | c.113delG | 8 | GI disorders | GI disorders, Proteinuria, Acroparesthesia |
| 46 | F | c.335G > A Arg112His | 22 | Proteinuria | Proteinuria |
| 47 | F | c.860G > A | 8 | Acroparesthesia | Acroparesthesia, HCM, Proteinuria, GI disorders |
| 48 | F | c.860G > A | 49 | GI disorders | GI disorders, HCM, Proteinuria |
| 49 | F | c.779G > A | 56 | Proteinuria | Proteinuria, HCM |
| 50 | F | c. 846_847delTC | 18 | Proteinuria | Proteinuria |
| 51 | M | c. 846_847delTC | 17 | Proteinuria | Proteinuria, HCM |
| 52 | F | c. 846_847delTC | 15 | Proteinuria | Proteinuria, PM, TIA |
| 53 | M | C172Y | 12 | GI disorders | GI disorders, Proteinuria |
| 54 | F | C172Y | 20 | Proteinuria | Proteinuria, HCM |
| 55 | M | C172Y | 23 | Proteinuria | Proteinuria |
| 56 | M | c. 846_847delTC | 62 | Proteinuria | Proteinuria |
| 57 | M | C172Y | 14 | GI disorders | GI disorders, HCM, Proteinuria |
| 58 | F | c. 846_847delTC | 25 | Stroke | Stroke, HCM, PM, Proteinuria, TIA |
| 59 | F | c. 846_847delTC | 12 | Acroparesthesia | Acroparesthesia, Proteinuria |
| 60 | F | C172Y | 5 | – | – |
HCM hypertrophic cardiomyopathy, cSVD cerebral small vessel disease, VBD vertebrobasilar dolichoectasia, CKD chronic kidney disease, PM PaceMaker, GI gastrointestinal