Table 4 Correlation between genotype and phenotype in 28 Japanese subjects

From: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

Mutation Infantile Late-infantile Juvenile Adult Total allele
12Del3Ins 9 0 2 0 11
T652P 5 0 0 0 5
R515H 2 1 0 0 3
R204X 2 0 0 0 2
P302A 1 1 0 0 2
S52F 1 0 0 0 1
W115X 1 0 0 0 1
393delT 1 0 0 0 1
I234T 1 0 0 0 1
S257F 1 0 0 0 1
T262I 1 0 0 0 1
L364R 1 0 0 0 1
W410G 1 0 0 0 1
1719-1720insT 0 0 1 0 1
W647X 0 0 1 0 1
IVS6+5G>A 0 0 0 1 1
Y354X 0 0 0 1 1
I66M+I289V 0 0 3 5 8
G270H 0 1 0 4 5
L618S 0 1 0 3 4
Total allele 27 4 7 14 52