Table 2 Results of mutation analysis

c.113_130del18

[15]

p. Arg38_Ser43del

Deletion (in-frame deletion)

Exon 2

Basic Domain

1 (2+/1-)

c.356_357delTT

Novel

p. Phe119X*

Deletion (nonsense)

Exon 3

Basic Domain

1 (2+/2-)

c.815 T > C

[16]

p. Leu272Pro

Substitution (missense)

Exon 8

GTPase Domain

1 (1+)

c.983A > G

[16]

p. Val291_Lys328del

Substitution (splice, deletion in-frame)

Exon 9

GTPase Domain

10 (43+/5-)

c.984 G > A

[11, 16]

p. Lys328Lys

Substitution (splice)

Exon 9

GTPase Domain

1 (1+)

c.984 + 1 G > T

Novel

Unknown

Substitution (splice)

Intron 9

GTPase Domain

1 (1+)

c.1140 + 1 G > T

Novel

Unknown

Substitution (splice)

Intron 11

GTPase Domain

1 (1+)

c.1304_1305delGT

[15]

p. Cys435Tyrfs*9

Deletion (frameshift with premature stop)

Exon 13

GTPaseDomain

1 (4+)

c.1313A > C

Novel

p. Asp438Asp

Substitution (missense*)

Exon 14

GTPase Domain

1 (1+)

c.1376 G > A

Novel

p. Gly459Glu

Substitution (missense)

Exon 14

GTPase Domain

1 (1+/2-)

c.1544_1545delTA

Novel

p. Ile515Lysfs*4 (novel)

Deletion (frameshift with premature stop)

Exon 16

Dynamin Central Region

1 (1+/1-)

c.1665_1666insA

Novel

p. Met555Asnfs*7

Insertion (frameshift with premature stop)

Exon 17

Dynamin Central Region

1 (2+)

c.1687 C > T

Novel

p. Gln563X*

Substitution (nonsense)

Exon 17

Dynamin Central Region

1 (2+)

c.1983_1985delinsGG

Novel

p. Asp662Valfs*9

Deletion/insertion (frameshift with premature stop)

Exon 20

Dynamin Central Region

1 (1+)

c.2013 + 1 G > C

Novel

Unknown

Substitution (splice)

Intron 20

Dynamin Central Region

1 (2+)

c.2496 + 4_2496 + 5 delinsGTAAC

Novel

Unknown

Deletion/insertion (splice*)

Intron 24

Dynamin Central Region

1 (5+/1-)

c.2470 C > T

[17]

p. Arg824X*

Substitution (nonsense)

Exon 24

Dynamin Central Region

1 (1+)

c.2496 G > C

Novel

p. Leu832Phe/splice

Substitution (splice*)

Exon 24

Dynamin Central Region

1 (1+/3-)

c.2613 + 1 G > C

Novel

Unknown

Substitution (splice)

Intron 25

1 (2+/2-)

c.2614-9A > G

[18]

Unknown

Substitution (splice)

Intron 25

1 (7+)

c.2707 + 1 G > C

Novel

Unknown

Substitution (splice)

Intron26

4 (5+/1-)

c.2708_2711delTTAG

[2, 9–11, 15, 16, 19–21]

p. Val903Glyfs*3

Deletion (frameshift with premature stop*)

Exon 27

11 (29+/14-)

c.2713 C > T

[10]

p. Arg905X*

Substitution (nonsense)

Exon 27

1 (2+)

c.2728_2730 delGTT

Novel

p. Val910del

Deletion (in-frame deletion)

Exon 27

1 (8+/1-)

c.2826_2836delins GGATGCTCCA

[15, 19]

p. Arg943Aspfs*25

Deletion/insertion (frameshift with extension)

Exon 28

28 (58+/18-)