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Table 1 Summary of CFEOM1 probands included in report.

From: Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

Pedigree

Inheritance

Ethnicity

KIF21A mutation

De novo

KIF21A linkage

FEOM3 linkage

Additional Features

PG

AD

Caucasian

1067T>C

 

c/w linkage

  

KR

AD

Hispanic

2860C>T

 

linked

  

TG

AD

Caucasian

2860C>T

 

c/w linkage

  

NH

AD

Turkish

2861G>A

    

NJ

AD

Caucasian

2861G>A

    

LX

AD

Iranian

None

 

Reduced penetrance

Reduced penetrance

 

RY

Sporadic

Caucasian

2830G>C

Yes

  

+

IW

Sporadic

Caucasian

2860C>T

Yes

   

JT

Sporadic

Caucasian

2860C>T

    

IP

Sporadic

Caucasian

2860C>T

    

SK

Sporadic

Caucasian

2861G>T

Yes

  

+

XF

Sporadic

Caucasian

3022G>C

Yes

   

NG

Sporadic

Turkish

None

    

RZ

Sporadic

African

None

   

+

RX

Sporadic

Caucasian

None

    

SY

Sporadic

Caucasian

None

    
  1. c/w linkage = consistent with linkage; Reduced penetrance = consistent with linkage with reduced penetrance.