Table 1

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

aRNA sample also used for qRT-PCR validation experiments.

bSample used for validation experiments, but not microarray analysis.

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.

Coussens et al. BMC Genomics 2007 8:458   doi:10.1186/1471-2164-8-458