Table 3 Clinical-genetic correlation in NLSD-M patients

Family I

I.1

25y

F, 69y

c.24G > C

PT

Probably no protein production

Severe

c.516C > A

MM

Conserve localization and partially lipase function

I.2

40y

M, 62y

c.24G > C

PT

Moderate

c.516C > A

MM

Family II

II.1

47y

F, 74y

c.24G > C

PT

Severe

c.516C > A

MM

Family III

III.1

34y

M, 50y

c.542delCA

TM

Loss of hydrophobic domain

Severe

c.542delCA

TM

III.2

35y

M, 45y

c.542delCA

TM

Severe

c.542delCA

TM

Family IV

IV.1

58y

F, 74y

c.497A > G

MM

Totally loss of lipase function

Mild

c.1442C > T

MM

Partially loss of lipase function

Family V

V.1

52y

F, 52y

c.659delT

D

Loss of hydrophobic domain and localization

Severe

c.659delT

D

Family VI

VI.1

1y

M, 26y

c.41-47del

D

Probably no protein production

Moderate

c.41-47del

D

Family VII

VII.1

40y

F, 53y

c.553-565del

D

Loss of hydrophobic domain

Moderate

c.696 + 4 > G

SSM

Loss of lipase function

Family VIII

VIII.1

40y

M, 60y

c.177 T > G

MM

Partially loss of lipase function

Moderate

c.577A > T

MM

Partially loss of lipase function

VIII.2

35y

M, 50y

c.177 T > G

MM

Mild

c.577A > T

MM

VIII.3

58y

F, 58y

c.177 T > G

MM

Mild

c.577A > T

MM

Family IX

IX.1

64y

M, 79y

c.570A > C

MM

Affect central domain

Mild

c.570A > C

MM

Family X

X.1

45y

M, 47y

c.714C > A

MM

Unknown

Mild

c.714C > A

MM

Family XI

XI.1

5y

M, 14y

c.865C > T

MM

Partially loss of lipase function

Asymptomatic

c.424A > T

PT

Loss of hydrophobic domain