Table 1 Details of GM1 gangliosidosis patients’ cell lines

From: Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

Fibroblasts

Pt

Ph

Nucleotide changes

Amino acid changes

Mean Florenscence intensity (as from Fig. 1)

% of decrease‡ (Miglustat)

Molecular reference

 

1.

I

c.176 G > A/c.176 G > A

p.Arg59His/p.Arg59His

132

18.30

13

2.

I

c.275 G > A/c.1051 C > T

p. Trp92*/p.R351X

129

20.56

4/14

3.

I

c.1445 G > A/c.1480–2 A > 

p.Arg482H/splicing defect

160

29.45

15/16

4.

J

c.152 T > A/c.602 G > A

p.Ile51Asn/p. Arg201His

121

20

4/17

5.

J

c.602 G > A/c.247dup1

p.Arg201His/p.Tyr83LeufsX8

117

25

17/this report

Lymphocytes

Pt

Ph

Nucleotide changes

Amino acid changes

Median Ratio† (P/C, as from Fig. 3)

% of decrease‡ (Miglustat)

Molecular reference

 

6.

I

c.176 G > A/c.176 G>A

p.Arg59His/p.Arg59His

15.3

n.a

13

7.

I

c.955 + 2 T > G/c.1480–1 G > A

Splicing defect/splicing defect

9.47

23

this report

8.

I

c.841 C > T/c.841 C > T

p.His281Tyr/p.His281Tyr

13.5

15

18

9.

LI

c.572 G > A c.1445 G > A

p.Ser191Asn/p.Arg482His

3.7

n.a

4/16

10.

J

c.602 G > A/c.1736G > A

p.Arg201His/p.Gly579Asp

1.39

35

15/18

11.

J

c.176 G > A/c.1313 G > A

p.Arg59His/p.Gly438Glu

1.9

23

13/19

12.

J

c.602 G > A/c.841 C > T

p.Arg201His/p.His281Tyr

1.95

n.a

17/20

13.

J

c.1313 G > A/c.1313 G > A

p.Gly438Glu/p.Gly438Glu

1.54

47

19

14.

J

c.572 G > A/c.1471 G > T

Ser191Asn/Asp491Thr

1.45

5

18/21

15.*

J

c.602 G > A/c.809 A > C

p.Arg201His/Tyr270Ser

1.23

25

17/this report

16.*

J

c.602 G > A/c.809 A > C

p.Arg201His/Tyr270Ser

1.29

30

17/this report

17.

A

c.1068 + 1 G > T/c.1325 G > A

Splicing defect/p.Arg442Gln

1.44

n.a

21/22

  1. Legend. Pt = patient; Ph = phenotype (I = infantile; LI = late infantile; J = juvenile; A = adult); n.a. = not assessed. + Patient in treatment with Miglustat (from 200 mg TID for adults to 100 mg SID in babies with BSA m2 < 0.47) at the moment of the blood drawing. The patients reported in bold were previously reported; ‡The percentage of GM1 ganglioside decrease after the addition of Miglustat (1 mM) in the medium of cell cultures is calculated from the mean fluorescence values in the case of fibroblasts, and from median values for lymphocytes. †The ratio is calculated between the median value of the GM1 fluorescence intensity of the patient sample and a control labeled and analyzed during the same FACS session. * Pt10 and 11 are brothers.
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