Table 1 Summary of the mutations in the ECM1 gene reported so far

Genotype: homozygous

Intron 1

IVS1+1G>C

Splice site

Removal of the translation initiation site

Israeli Arab,

Kuwaiti, Egyptian

10, 17

Exon 2

c.93G>T

Missense

p.R31S

Libyan

19

Exon 2

c.94 C>T

Nonsense

p.Q32X

Libyan, Indian

17, 19

Exon 3

c.157 C>T

Nonsense

p.R53X

Japanese

20, 21

Exon 3

c.220 C>T

Nonsense

p.Q74X

Indian

17

Exon 4

c.243delG

Deletion

In-frame deletion of 61 amino acids

Thai

20

Exon 5

c.340 C>T

Nonsense

p.Q114X

Japanese

17

Exon 6

c.499 T>C

Missense

p.F167L

Polish

22

Exon 6

c.501insC

Insertion

Frame shift

Dutch, Belgian

2,23

Exon 6

c.507delT

Deletion

Frame shift

Japanese, Thai, Indian, Canadian, Iranian, Turkish, Pakistani, Chinese

17,20,23,24, 25,26

Exon 6

c.541del3ins16

Indel

Frame shift

Brazilian

27

Exon 6

c.589 C>T

Nonsense

p.Q197X

Italian

28

Exon 6

c.629 T>C

Missense

p.L210P

French

17

Exon 6

c.658 T>G

Missense

p.C220G

Chinese

29, 30

Exon 7

c.727 C>T

Nonsense

p.R243X

Belgian

31

Exon 7

c.735delTG

Deletion

Frame shift

Turkish

20

Exon 7

c.742 G>T

Nonsense

p.E248X

Indian

32

Exon 7

c.785delA

Deletion

Frame shift

Indian

20

Exon 7

c.806 G>A

Missense

p.C269T

Saudi Arabian

33

Exon 7

c.826 C>T

Nonsense

p.Q276X

South African

2

Exon 7

c.892delC

Deletion

Frame shift

Japanese

20

Exon 7

c.1036 C>T

Nonsense

p.Q346X

Pakistani

2

Exon 7

c.1077 G>A

Nonsense

p.W359X

British

2, 17

Exon 7

c.1019delA

Deletion

Frame shift

Kuwaiti

2

Intron 7

IVS7+1G>A

Splice site

Pakistani

17

Exon 8

c.1106 A>G

Missense

p.H369C

Indian

17

Exon 8

c.1190insC

Insertion

Frame shift

American

20

Exon 8

c.1209ins62

Insertion

Frame shift

Pakistani

34

Exon 8

c.1246 C>T

Nonsense

p.R416X

Indian

17

Exon 8

c.1253delC

Deletion

Frame shift

British

17

Exon 8

c.1300delAA

Deletion

Frame shift

Saudi Arabian

17, 33

Intron 8

IVS8+1G>A

Splice site

Pakistani

17

Intron 8 - Intron 10

IVS8_IVS10del

Deletion

Deleterious effect on protein structure and function

Saudi Arabian

2, 33

Exon 10

c.1393delA

Deletion

Frame shift

Israeli

18

Exon 10

c.1426 C>T

Nonsense

p.R476X

Indian

17

Exon 10

c.1441 C>T

Nonsense

p.R481X

Indian

17

Genotype: compound heterozygous

Exon 1

c.29 T>G

Missense

p.V10G

Polish

17

Intron 1

IVS1+1G>A

Splice site

Exon 3

c. 157 C>T

Nonsense

p.R53X

Spanish

17

Exon 6

c.603delTG

Deletion

Frame shift

Exon 4

c.240delTC

Deletion

Frame shift

German

18

Exon 7

c.1019delA

Deletion

Frame shift

Exon 4

c.283 C>T

Nonsense

p.Q95X

British

17

Exon 10

c.1432delA

Deletion

Frame shift

Exon 6

c.480 G>A

Nonsense

p.W160X

Canadian

20

Exon 6

c. 499 T>A

Missense

p.F167I

Exon 6

c.542insAA

Insertion

Frame shift

Italian

20

Exon 7

c.727 C>T

Nonsense

p.R243X

Exon 6

c.543delTG/ins15

Indel

Frame shift

Italian

35

Exon 7

c.727 C>T

Nonsense

p.R243X

Exon 6

c.658 T>G

Missense

p.C220G

Chinese

36

Exon 10

c.1426 C>T

Nonsense

p.R476X

Exon 7

c.727 C>T

Nonsense

p.R243X

Italian

17

Exon 7

c.735delTG

Deletion

Frame shift