Table 2 Genotypes of pycnodysostosis patients from different nationalities

c.436G > C

c.436G > C

1

1

Algerian

Osimani, et al., 2009

c.436G > C

c.721C > T

1

1

American Hispanic

Gelb, et al., 1996

c.235G > A

c.238delG

1

1

Austria

Fratzl-Zelman, et al., 2004

c.934C > G

c.934C > G

1

1

Austria

Fratzl-Zelman, et al., 2004

c.830C > T

c.830C > T

1

1

Belgian

Gelb, et al., 1998

c.953G > A

c.953G > A

2

2

Brazil

Bertola et al., 2010

c.953G > A

c.721C > T

1

1

Brazil

Bertola et al., 2010

c.721C > T

c.436G > C

1

1

Brazil

Bertola et al., 2010

c.721C > T

c.721C > T

2

2

Brazil

Bertola et al., 2010

c.494A > G

c.721C > T

1

1

Caucasian

Laffranchi et al., 2010

c.154A > T

c.236G > A

2

1

Caucasian

Ho, et al., 1999

c.560A > C

c.560A > C

1

1

Chinese

Li, et al., 2009

c.121-1G > A

c.926T > C

1

1

Denmark

Haagerup, et al., 2000

c.236G > A

c.926T > C

1

1

Denmark

Haagerup, et al., 2000

c.926T > C

c.926T > C

6

3

Denmark

Haagerup, et al., 2000

c.890G > A; 785_890del

c.890G > A; 785_890del

1

1

Egypt

Donnarumma, et al., 2007

c.136C > T

c.136C > T

3

1

Germany

Schilling, et al., 2007

c.934C > G

c.934C > G

2

1

Honduran

Hou, et al., 1999

c.830C > A

c.830C > A

1

1

Indian

Hou, et al., 1999

c.990A > G

c.990A > G

16

1

Israeli Arab

Gelb, et al., 1996

c.20T > C

c.580G > A

1

1

Italy

Donnarumma, et al., 2007

c.494A > G

c.721C > T

1

1

Italy

Donnarumma, et al., 2007

c.26T > C

c.26T > C

2

2

Japanese

Nishi, et al., 1999; Fujita, et al., 2000

c.26T > C

c.892T > C

1

1

Japanese

Nishi, et al., 1999

c.426delT

c.426delT

2

2

Japanese

Fujita, et al., 2000

c.830C > T

c.830C > T

3

3

Japanese

Nishi, et al., 1999; Fujita, et al., 2000

c.721C > T

c.721C > T

10

1

Mexican

Johnson, et al., 1996

c.908G > A

c.908G > A

3

1

Mexican

Toral-Lopez et al., 2010

c.60_61dupGA

c.60_61dupGA

3

1

Moroccan

Donnarumma, et al., 2007

c.436G > C

c.436G > C

1

1

Moroccan

Rothenbuhler et al., 2010

c.436G > C

c.436G > C

2

1

Moroccan Arab

Gelb, et al., 1996

c.282dupA

c.282dupA

1

1

Pakistan

Donnarumma, et al., 2007

c.728G > A

c.728G > A

5

1

Pakistani

Khan et al., 2010

c.749A > G

c.749A > G

1

1

Pakistan

Donnarumma, et al., 2007

c.830C > T

c.830C > T

5

3

Pakistan

Donnarumma, et al., 2007; Naeem, et al., 2009

c.955G > T

c.955G > T

1

1

Pakistan

Donnarumma, et al., 2007

c.721C > T

c.721C > T

2

2

Portuguese

Hou, et al., 1999; Donnarumma, et al., 2007

c.830C > A

c.830C > A

1

1

Portuguese

Hou, et al., 1999

c.635A > G

c.721C > T

1

1

Spanish

Hou, et al., 1999

c.721C > T

c.746T > C

1

1

Spanish

Donnarumma, et al., 2007

c.721C > T

c.721C > T

1

1

Spanish

Rothenbuhler et al., 2010

c.931G > C

c.931G > C

2

1

Swiss

Nishi, et al., 1999

c.436G > C

c.436G > C

1

1

Tunisia

Donnarumma, et al., 2007

c.154A > T

c.236G > A

1

1

*

Hou, et al., 1999

c.568C > T

c.568C > T

1

1

*

Hou, et al., 1999

c.830C > T

c.830C > T

1

1

*

Hou, et al., 1999

c.422C > T

c.422C > T

1

1

Unknown

Chavassieux, et al., 2008

c.721C > T

c.721C > T

3

1

Unknown

Everts, et al., 2003