|
P
|
G
|
Sb/Cs
|
Year of dg
|
Age at death (†)/ age at last follow up
|
First visceral symptoms (age)
|
Neuro-psychiatric symptoms (age)
|
BMS (Y/ND)
|
Filipin and CEL or CE (Y/ND)
|
Histology and AT (Y/ND)
|
Mutations (NPC1)predicted effect on protein
|
|---|
|
Age at dg
|
|---|
|
1
|
M
|
0
|
2009
|
6y
|
NJa, Sm (3 m)
|
NR
|
Y
|
ND
|
ND
|
c.3557G>A/c.3557G>A
|
|
1y
|
p.R1186H/p.R1186H
|
|
2
|
M
|
0
|
2011
|
6y
|
HSm (3y)
|
NR
|
ND
|
ND
|
ND
|
c.2801G>A/c.2861C>T
|
|
3y
|
p.R934Q/p.S954L
|
-
AT autopsy, BMS bone marrow smear, CE non-LDL-cholesterol esterification test, CEL LDL-cholesterol esterification test, Cs cousin, dg diagnosis, G gender, HSm hepatosplenomegaly, M male, m months, ND not done, NJa neonatal jaundice, NR not reported, P order of patient at the category, Sm splenomegaly, y years, Y yes. Note: italics indicate decisive diagnostic method or methods (if they were performed simultaneously or in quick succession).
