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Table 1 Phenotypes of patients, identified causative mutations, fusion state and site of obtained sutures.

From: Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis

Analysis

Patient

Phenotype

Sex

Age (m)

Mutation

Fused Suture

Fusing Suture

Unfused Suture

Microarray

#42

Apert syndrome

M

7

FGFR2 Ser252Trp

Coronala

Lambdoida

Metopica

 
 

#36

Unicoronal synostosis

M

3

No FGFR or TWIST1

 

Coronala

Coronala

Sagittal

 

#46

Sagittal synostosis

M

5

No FGFR or TWIST1

Sagittal

 

Coronal

Lambdoida

Metopica

 

#50

Sagittal synostosis

M

6

No FGFR or TWIST1

Sagittal

 

Coronal

 

#58

Sagittal synostosis

M

7

No FGFR or TWIST1

Sagittala

Sagittalb

Sagittala

Coronal

Lambdoida

Validation

#47

Apert syndrome

F

38

FGFR2 Pro253Arg

Metopic

  
 

#85

Apert syndrome

F

40

FGFR2 Ser252Trp

Sagittal

Metopic

 
 

#90

Apert syndrome

F

4

FGFR2 Pro253Arg

Coronal

Coronalc

Sagittal

Metopic

 

#61

Apert syndrome

M

20

FGFR2 Ser252Trp

 

Coronal

Coronal

 

#92

Muenke syndrome

F

6

FGFR3 Pro250Arg

  

Coronal

 

#104

Saethre-Chotzen syndrome

M

14

TWIST1 c.256_276dup

Sagittal

Metopic

  
 

#49

Metopic synostosis

M

10

No FGFR or TWIST1

Metopic

  
 

#60

Sagittal synostosis

F

9

No FGFR or TWIST1

Sagittal

Sagittal

 
 

#63

Sagittal synostosis

M

10

No FGFR or TWIST1

Sagittal

Sagittal

Lambdoid

 

#72

Lambdoid synostosis

M

26

No FGFR or TWIST1

Lambdoid

  
 

#91

Sagittal synostosis

F

5

No FGFR or TWIST1

  

Metopic

 

#94

Metopic synostosis

F

9

No FGFR or TWIST1

Metopic

Metopic

Sagittal

 

#95

Unicoronal synostosis

M

5

No FGFR or TWIST1

Coronal

  
 

#41

Normal – Tessier Cleft

F

91

Not tested

  

Metopic

 

#69

Normal – hydrocephalus

F

4

Not tested

  

Lambdoid

 

#73

Normal – cerebellar tumour

M

9

Not tested

  

Coronal

 

#81

Normal – hydrocephalus

F

2

Not tested

  

Lambdoid

 

#87

Normal – cerebellar tumour

M

57

Not tested

  

Coronal

 

#89

Normal – hydrocephalus

M

1 day

Not tested

  

Lambdoid

Histology

#3

Apert syndrome

M

4

FGFR2 Ser252Trp

Lambdoid

  
 

#5

Sagittal synostosis

M

3

No FGFR or TWIST1

Sagittal

  
 

#80

Metopic synostosis

M

6

No FGFR or TWIST1

  

Coronal

Sagittal

 

#83

Sagittal synostosis

M

6

No FGFR or TWIST1

  

Lambdoid (x2) Coronal

 

#84

Unicoronal synostosis

F

7

No FGFR or TWIST1

Coronal

 

Sagittal

  1. aRNA sample also used for qRT-PCR validation experiments.
  2. bSample used for validation experiments, but not microarray analysis.
  3. cTwo samples of varying degrees of fusion were obtained. The sample which was at the earlier stage of fusion was used for validation qRT-PCR; the sample at a later stage of fusion was used for within patient comparison only.