Table 1 Ethnic origin and molecular genetic findings of the 14 patients of this study

 1

Armenia^a

c.-24–26_170 + 5192del ^b

p.0?

homo

exon 2 (homo)

This study

 2

Turkey^a

c.-24–26_170 + 5192del ^b

p.0?

homo

exon 2 (homo)

This study

 3

Turkey^a

c.-24–26_170 + 5192del ^b

p.0?

homo

exon 2 (homo)

This study

 4

Pakistan

c.841G > A

p.(E281K)^c

homo

n.a.

[3]

 5

Pakistan

c.841G > A

p.(E281K)^c

homo

n.a.

[3]

 6

Pakistan

c.881G > A

p.(G294E)

homo

n.a.

[18]

 7

Pakistan

c.841G > A

p.(E281K)^c

homo

n.a.

[3]

 8-1

Germany

c.490G > A

p.G164S

homo

n.a.

[8]

 8-2

Germany

c.490G > A

p.G164S

homo

n.a.

[8]

 9

Germany

c.704dupC

p.(D236Rfs*2)

homo

n.a.

[7]

10

Turkey /

c.359C > T

p.(P120L)

hetero

n.a.

This study

    Turkey

c.881G > A

p.(G294E)

hetero

n.a.

[4]

11

Turkey

c.841G > A

p.(E281K)^d

homo

n.a.

[4]

12

Germany /

c.619G > C

p.(G207R)

hetero

-

This study

    Germany

n.d.

?

?

exon 8 (hetero)

This study

13

Germany /

c.959dupG

p.(S321Ifs*13)

hetero

-

[14]

    Germany

deletion^e

?

hetero

exons 1–8 (hetero)

This study