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Table 1 Summary of clinical and molecular data of 12 FHS patients in our cohort

From: Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

 

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Patient 6

Patient 7

Patient 8

Patient 9

Patient 10

Patient 11

Patient 12

SRCAP Mutation

c.7303C > T

/p.Arg2435Ter

c.7189G > T

/p.Glu2397Ter

c.7330C > T

/p.Arg2444Ter

c.7303C > T

/p.Arg2435Ter

c.7303C > T

/p.Arg2435Ter

c.7330C > T

/p.Arg2444Ter

c.7245_7246delAT/p.Ser2416ArgfsTer26

c.7330C > T

/p.Arg2444Ter

c.7330C > T

/p.Arg2444Ter

c.7303C > T

/p.Arg2435Ter

c.7303C > T

/p.Arg2435Ter

c.7466C > G

/p.Ser2489Ter

Exon

E34

E34

E34

E34

E34

E34

E34

E34

E34

E34

E34

E34

De novo

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

NA

Yes

Yes

Short Stature

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Age at first assessment

9Y2M

2Y2M

5Y2M

5Y6M

1Y6M

2Y

1Y

5Y

6Y6M

5Y2M

1Y3 M

2Y2M

Delayed Bone Age

Yes

Yes

Yes

Yes

NA

Yes

Yes

Yes

Yes

Yes

NA

Yes

Triangular Face

Yes

Yes

 

Yes

 

Yes

Yes

Yes

 

Yes

Yes

 

Low-hanging Columella

Yes

Yes

    

Yes

Yes

 

Yes

Yes

Yes

Short Philtrum

Yes

     

Yes

Yes

Yes

Yes

Yes

Yes

Thin Upper Vermilion Border

Yes

Yes

    

Yes

Yes

Yes

Yes

Yes

Yes

Wide Mouth

 

Yes

      

Yes

Yes

  

Deep-set Eyes

 

Yes

  

Yes

  

Yes

Yes

   

Long Eyelashes

Yes

 

Yes

 

Yes

Yes

 

Yes

Yes

Yes

Yes

Yes

Low Set Ears

Yes

  

Yes

Yes

  

Yes

 

Yes

Yes

Yes

Broad Thumbs

  

Yes

    

Yes

Yes

Yes

Yes

Yes

Brachydactyly

  

Yes

Yes

 

Yes

 

Yes

Yes

Yes

Yes

Yes

Clinodactyly V finger

    

Yes

Yes

 

Yes

Yes

   

Small Teeth/Widely Spaced Teeth

NA

NA

Yes

Yes

   

Yes

Yes

Yes

Yes

Yes

High-pitched Voice

         

Yes

  

Expressive Language Delay

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Mild to Moderate Intellectual Disability

Yes

Yes

Yes

Yes

 

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Congenital Heart Defects

NA

NA

  

NA

Yes

Yes

  

NA

Yes

NA

Gastrointestinal Motility Issues

NA

NA

 

Yes

   

Yes

Yes

 

Yes

Yes

Behavioral Issues

Yes

 

Yes

    

Yes

Yes

Yes

Yes

 
  1. Blank feature absent, NA data not available