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Table 1 Summary of the reported variants in PITX3

From: Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report

PMID

Variant

Family

Numbers

Phenotype

   

Family

Family Members

Cataract

Anterior segment dysgenesis

Peters anomaly

Corneal opacity

Microcornea

Microphthalmia

Nystagmus

Homozygous

 21836522

c.640_656del (p.Ala214Argfs*42)

Family 1

1

1

-

-

-

-

-

Y

-

 16565358

c.650del (p.Gly217Alafs*92)

Family 1

 

1

Y

-

-

Y

-

Y

-

 16565358

c.650del (p.Gly217Alafs*92)

Family 1

 

1

Y

-

-

Y

-

Y

-

 29405783

c.669del (p.Leu225Trpfs*84)

Family 2

1

2

-

Y

-

-

-

-

-

Heterozygous

 29405783

c.38G>A (p.Ser13Asn)

Family 5

1

1

-

-

Y

-

-

-

-

 29405783

c.38G>A (p.Ser13Asn)

Family 5

 

1

-

-

Y

-

-

-

-

 29405783

c.38G>A (p.Ser13Asn)

Family 5

 

1

Y

-

-

-

-

-

-

 9620774

c.94G>A (p.Gly32Ser)

Family 2

1

2

Y

-

-

-

-

-

-

 21633712

c.542del (p.Pro181Leufs*128)

Family 1

1

8

Y

-

-

-

-

-

-

 26885225

c.543del (p.Leu182Trpfs*127)

Family 1

1

8

Y

-

-

-

-

-

-

 24555714

c.573del (p.Ser192Alafs*117)

Family 5

1

1

Y

-

-

Y

Y

-

-

 24555714

c.573del (p.Ser192Alafs*117)

Family 5

 

1

Y

-

-

Y

Y

-

-

 24555714

c.573del (p.Ser192Alafs*117)

Family 5

 

1

Y

-

-

-

Y

-

-

 29405783

c.582del (p.Ile194Metfs*115)

Family 4

1

1

Y

-

-

-

-

Y

-

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

1

1

Y

-

-

-

-

-

-

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

 

1

Y

-

-

-

-

-

Y

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

 

1

Y

-

-

-

-

-

-

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

 

1

Y

-

-

-

-

-

-

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

 

1

Y

-

-

-

-

-

-

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

 

1

Y

-

-

-

-

-

-

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

 

1

Y

-

-

-

-

-

-

 30816539

c.608del (p.Ala203Glyfs*106)

Family 10003

1

5

Y

-

-

-

-

-

-

 9620774

c.640_656dup (p.Gly220Profs*95)

Family 1

1

6

-

Y

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 1

1

6

Y

-

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 2

1

7

-

Y

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 2

 

4

Y

Y

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 3

1

14

Y

-

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 4

1

12

Y

-

-

-

-

-

-

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 5

1

5

Y

-

-

-

-

-

-

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 1

1

7

Y

-

-

-

-

-

-

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 2

1

6

Y

-

-

-

-

-

-

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 2

 

4

Y

Y

-

-

-

-

-

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 3

1

14

Y

-

-

-

-

-

-

 16272057

c.640_656dup (p.Gly220Profs*95)

Family 1

1

20

Y

-

-

-

-

-

-

 16636655

c.640_656dup (p.Gly220Profs*95)

Family 1

1

29

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

1

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 1

1

1

Y

Y

-

Y

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

Y

-

-

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 2

1

1

Y

-

-

-

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 3

1

1

Y

-

-

-

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 3

 

1

Y

Y

-

Y

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 4

1

1

Y

-

-

-

-

-

-

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 4

 

1

Y

-

-

Y

-

-

Y

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 1

1

1

Y

Y

-

-

-

-

-

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 1

 

1

Y

-

-

-

-

-

-

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 3

1

1

-

-

Y

-

-

-

-

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 3

 

1

Y

-

-

-

-

-

-

 30816539

c.640_656del (p.Ala214Argfs*42)

Family 10094

1

1

Y

-

-

-

-

-

-

 30816539

c.640_656del (p.Ala214Argfs*42)

Family 10178

1

1

Y

-

-

-

-

-

-

 16565358

c.650del (p.Gly217Alafs*92)

Family 1

1

26

Y

-

-

-

-

-

-

 29405783

c.669del (p.Leu225Trpfs*84)

Family 2

 

1

Y

-

-

-

-

-

-

 30894134

c.797_814del (p.Ser266_Ala271del)

Family 1

1

1

Y

-

-

-

-

-

-

 30894134

c.797_814del (p.Ser266_Ala271del)

Family 1

 

1

Y

-

-

-

-

-

-

PMID

Variant

Family

Phenotype

Country

Ethnicity

Years

Ref.

Sclerocornea

iridocorneal adhesions

buphthalmos

Glaucoma

Homozygous

 21836522

c.640_656del (p.Ala214Argfs*42)

Family 1

Y

-

-

-

Saudi Arabia

Caucasian

2011

Aldahmesh et al., 2011 [12]

 16565358

c.650del (p.Gly217Alafs*92)

Family 1

-

-

-

-

Lebanese

Caucasian

2006

Bidinost et al 2006 [13]

 16565358

c.650del (p.Gly217Alafs*92)

Family 1

-

-

-

-

Lebanese

Caucasian

2006

Bidinost et al 2006 [13]

 29405783

c.669del (p.Leu225Trpfs*84)

Family 2

Y

-

Y

-

Iraq

Caucasian

2018

Celia et al,. 2018

Heterozygous

 29405783

c.38G>A (p.Ser13Asn)

Family 5

-

-

-

-

French

Caucasian

2018

Celia et al,. 2018

 29405783

c.38G>A (p.Ser13Asn)

Family 5

-

-

-

-

French

Caucasian

2018

Celia et al,. 2018

 29405783

c.38G>A (p.Ser13Asn)

Family 5

-

-

-

-

French

Caucasian

2018

Celia et al,. 2018

 9620774

c.94G>A (p.Gly32Ser)

Family 2

-

-

-

-

USA

Caucasian

1998

Semina et al., 1998 [14]

 21633712

c.542del (p.Pro181Leufs*128)

Family 1

-

-

-

-

UK

Caucasian

2011

Berry et al., 2011 [15]

 26885225

c.543del (p.Leu182Trpfs*127)

Family 1

-

-

-

-

Chinese

Asian

2015

Xiangyu Ye et al,.2015

 24555714

c.573del (p.Ser192Alafs*117)

Family 5

-

Y

-

-

Belgo-Romanian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.573del (p.Ser192Alafs*117)

Family 5

-

-

-

-

Belgo-Romanian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.573del (p.Ser192Alafs*117)

Family 5

-

-

-

-

Belgo-Romanian

Caucasian

2014

Verdin et al., 2014 [6]

 29405783

c.582del (p.Ile194Metfs*115)

Family 4

-

-

-

-

North Ireland

Caucasian

2018

Celia et al,. 2018

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 28249924

c.608del (p.Ala203Glyfs*106)

Family 1

-

-

-

-

Chinese

Asian

2017

Liu et al., 2017 [16]

 30816539

c.608del (p.Ala203Glyfs*106)

Family 10003

-

-

-

-

Chinese

Asian

2019

Zehua Wu et al,.2019

 9620774

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

USA

Caucasian

1998

Semina et al., 1998 [14]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

UK

Caucasian

2004

Berry et al., 2004 [15]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

UK

Caucasian

2004

Berry et al., 2004 [15]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 2

-

-

-

-

UK

Caucasian

2004

Berry et al., 2004 [15]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 2

-

-

-

-

UK

Caucasian

2004

Berry et al., 2004 [15]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 3

-

-

-

-

English

Caucasian

2004

Berry et al., 2004 [15]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 4

-

-

-

-

Chinese

Asian

2004

Berry et al., 2004 [15]

 15286169

c.640_656dup (p.Gly220Profs*95)

Family 5

-

-

-

-

Hispanic

Caucasian

2004

Berry et al., 2004 [15]

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

UK

Caucasian

2005

P K F Addison et al,.2005 [17]

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

Y

UK

Caucasian

2005

P K F Addison et al,.2005 [17]

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 2

-

-

-

-

UK

Caucasian

2005

P K F Addison et al,.2005 [17]

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 2

-

-

-

-

UK

Caucasian

2005

P K F Addison et al,.2005 [17]

 15665340

c.640_656dup (p.Gly220Profs*95)

Family 3

-

-

-

-

UK

Caucasian

2005

P K F Addison et al,.2005 [17]

 16272057

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Brazil

Caucasian

2005

Finzi et al., 2005 [18]

 16636655

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australia

Caucasian

2006

Burdon et al., 2006 [19]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 18989383

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Australian

Caucasian

2008

Summers et al., 2008 [20]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 2

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 3

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 3

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 4

-

-

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 24555714

c.640_656dup (p.Gly220Profs*95)

Family 4

-

Y

-

-

Belgian

Caucasian

2014

Verdin et al., 2014 [6]

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

France

Caucasian

2018

Celia et al,. 2018

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

France

Caucasian

2018

Celia et al,. 2018

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 1

-

-

-

-

France

Caucasian

2018

Celia et al,. 2018

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 3

-

-

-

-

French

Caucasian

2018

Celia et al,. 2018

 29405783

c.640_656dup (p.Gly220Profs*95)

Family 3

-

-

-

-

French

Caucasian

2018

Celia et al,. 2018

 30816539

c.640_656del (p.Ala214Argfs*42)

Family 10094

-

-

-

-

Chinese

Asian

2019

Zehua Wu et al,.2019

 30816539

c.640_656del (p.Ala214Argfs*42)

Family 10178

-

-

-

-

Chinese

Asian

2019

Zehua Wu et al,.2019

 16565358

c.650del (p.Gly217Alafs*92)

Family 1

-

-

-

-

Lebanese

Caucasian

2006

Bidinost et al 2006 [13]

 29405783

c.669del (p.Leu225Trpfs*84)

Family 2

-

-

-

-

Iraq

Caucasian

2018

Celia et al,. 2018

 30894134

c.797_814del (p.Ser266_Ala271del)

Family 1

-

-

-

-

Chinese

Asian

2019

Fan, Q et al,.2019 [21]

 30894134

c.797_814del (p.Ser266_Ala271del)

Family 1

-

-

-

-

Chinese

Asian

2019

Fan, Q et al,.2019 [21]

  1. Notes: NA not reported in original article; F family; M family member; Het heterozygous; Hom homozygous; Y carry the relevant phenotype; −-, normal
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BMC Ophthalmology

ISSN: 1471-2415

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