Table 1.
Biochemical and genetic testing for NP-C diagnosis
| Patient | Gender | Age at diagnosis | Mutated gene | NPC1 or NPC2 gene variants | Filipin test |
|---|---|---|---|---|---|
| U1 | M | 2 y | NPC1 | p.(Asp1097Asn)/p.(Leu1248fs) | Classic |
| U2 | F | 6 m | NPC1 | p.(Gly1240Arg)/p.(Gly1240Arg) ♦ | Classic |
| U3 | M | 21 m | NPC1 | p.(Gly1240Arg)/p.(Gly1240Arg) ♦ | Classic |
| U4 | F | 2 y | NPC1 | p.(Pro543Leu)/p.(Gly319fs) | Classic |
| U5§♣♣ | F | ante-natal | NPC1 | p.(Gly994fs)/p.(Gly994fs) | Classic† |
| U6 | M | 2 y 5 m | NPC1 | p.(Pro377fs)/p.(Ser970fs) | Classic |
| U7§♣ | M | 1 d | NPC1 | c.3246-2_3247del/c.3246-2_3247del | Not done |
| U8 | M | 4 y 7 m | NPC1 | p.(Cys109del)/c.632-2_642del13insT | Classic |
| U9§ | M | 4 y 10 m | NPC1 | p.(Arg518Gln)/p.(Arg518Gln) | Classic |
| U10§ | M | 3 y 3 m | NPC1 | p.(Ala172Pro)/p.(Ala172Pro) | Classic |
| U11§ | F | 15 m | NPC2 | p.(Ser67Pro)/p.(Ser67Pro) | Classic |
| U12 | F | 1 m | NPC1 | p.(Leu724Pro)/c.3754+1G>C | Classic |
| U13§ | M | 2 y 10 m | NPC2 | p.(Cys99Arg)/p.(Cys99Arg) | Classic |
| U14§♣♣ | M | 4 m | NPC1 | p.(Gly994fs)/p.(Gly994fs) | Classic |
| U15 | M | 4 m | NPC1 | p.(Trp942Cys)/p.(Gln991fs) | Classic |
| U16 | M | 2 y 9 m | NPC1 | p.(His1239Arg)/p.(His1239Arg) | Classic |
| T1§♣ | M | 1 m | NPC1 | c.3246-2_3247del/c.3246-2_3247del | Classic |
| T2§ | F | 14 d | NPC1 | p.(Thr1036Met)/p.(Thr1036Met) | Classic |
| T3 | F | 3 m | NPC1 | p.(Pro543Leu)/p.(Thr1205fs) | Classic |
| T4 | F | 5 m | NPC1 | p.(Pro543Leu)/c.2245+1G>A | Classic |
| T5 | F | 4 m | NPC1 | p.(Leu830Pro)/p.(Arg958*) | Classic |
| T6§ | M | 1 m | NPC1 | p.(Gly1240Arg)/p.(Gly1240Arg) ♦ | Classic |
| T7§ | M | 17 m | NPC1 | p.(Gly1240Arg)/p.(Gly1240Arg) ♦ | Classic |
| T8 | M | 4 m | NPC1 | p.(Thr1205Arg)/p.(Thr1205Lys) | Classic |
| T9§ | F | 4 m | NPC1 | p.(Cys63fs)/p.(Cys63fs) | Classic |
| T10 | M | 2 m | NPC1 | p.(Thr1036Met)/p.(Thr1036Met) | Classic |
U1 to U16: untreated patients; T1 to T10: miglustat-treated patients; the ♣ and ♣♣ symbols indicate siblings; § indicates consanguinity; ♦ pinpoints the four patients originating from South India or Sri Lanka, all carrying the same homozygous mutation. †filipin test made on cultivated chorionic villi. Abbreviations: y = years, m = months, d = days