Table 1 Demographic and genetic data of 48 patients belonging to 39 families (Roman number indicates family)

I.1

Index

F

c.758_759delTT

p.F26Cfs

P (PVS1)

I.2

Sister

F

c.758_759delTT

p.F26Cfs

P (PVS1)

II.1

Index

F

c.2223_2224delAC

p.A514Afs516X

P (PVS1)

III.1

Index

F

c.1578_1579delAA

p.K299Nfs304X

P (PVS1)

IV.1

Index

M

c.893A>T

p.N71I

P (PS1)

IV.2

Brother

M

c.893A>T

p.N71I

P (PS1)

V.1

Index

F

c.2633G>C

p.R651P

P (PS1)

VI.1

Index

F

c.1885C>T

p.Q402X

P (PVS1)

VII.1

Index

M

c.?-2664dup2949-?

Splice region variant

P (PVS1)

VII.2

Brother

M

c.?-2664dup2949-?

Splice region variant

P (PVS1)

VII.3

Daughter

F

c.?-2664dup2949-?

Splice region variant

P (PVS1)

VII.4

Daughter

F

c.?-2664dup2949-?

Splice region variant

P (PVS1)

VIII.1

Index

F

c.886insT

p.K69X

P (PVS1)

IX.1

Index

F

c.2048G>A

p.W456X

P (PVS1)

X.1

Index

F

g.22099152G>T

Splice region variant

P (PVS1)

XI.1

Index

M

c.2648_?del

p.A656_?del

P (PVS1)

XII.1

Index

F

c.2327_?del

p.R549_?del

P (PVS1)

XIII.1

Index

F

g.22168393_delA

Splice region variant

P (PVS1)

XIV.1

Index

F

c.1552C>T

p.R291X

P (PVS1)

XV.1

Index

F

g.22190503G>A

Splice region variant

P (PVS1)

XVI.1

Index

F

c.889_893delGTAAA

p.V70Sfs77X

P (PVS1)

XVII.1

Index

F

c.2086_?del

p.A469_?del

P (PVS1)

XVIII.1

Index

F

c.1180T>C

p.W167R

P (PS1)

XIX.1

Index

F

c.2282C>T

p.P534L

P (PS1)

XX.1

Index

F

c.2416G>A

p.G579R

P (PS1)

XXI.1

Index

F

c.2920C>T

p.R747X

P (PVS1)

XXII.1

Index

F

c.2920C>T

p.R747X

P (PVS1)

XXIII.1

Index

M

c.1152delA

p.L157Lfs220X

P (PVS1)

XXIV.1

Index

F

c.1572C>A,c.1580_1582delTGA

p.Y297X

P (PVS1)

XXV.1

Index

F

g.22076478A>T

Splice region variant

P (PVS1)

XXVI.1

Index

F

g.22190507G>A

Splice region variant

P (PVS1)

XXVII.1

Index

F

c.889_893delGTAAA

p.V70Sfs77X

P (PVS1)

XXVII.2

Father

M

c.889_893delGTAAA

p.V70Sfs77X

P (PVS1)

XXVIII.1

Index

M

c.2879G>T

p.C733F

P (PS1)

XXVIII.2

Sister

F

c.2879G>T

p.C733F

P (PS1)

XXIX.1

Index

F

c.2642T>C

p.F654S

P (PS1)

XXX.1

Index

M

c.2387T>G

p.L569R

P (PS1)

XXX.2

Mother

F

c.2387T>G

p.L569R

P (PS1)

XXXI.1

Index

F

c.2085G>C

p.K468N

P (PS1)

XXXII.1

Index

M

c.2282C>T

p.P534L

P (PS1)

XXXIII.1

Index

M

g.22033125T>G

Splice region variant

P (PVS1)

XXXIV.1

Index

M

c.2380C>T

p.R567X

P (PVS1)

XXXV.1

Index

M

c.2005G>T

p.V442P

P (PS1)

XXXV.2

Mother

F

c.2005G>T

p.V442P

P (PS1)

XXXVI.1

Index

F

c.2416G>A

G579R

P (PS1)

XXXVII.1

Index

M

g.22099152G>A

Splice region variant

P (PVS1)

XXXVIII.1

Index

F

c.2617delG

p.D646Ifs

P (PVS1)

XXXIX.1

Index

M

c.1363_1364delTC

p.S228Pfs236X

P (PVS1)