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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.
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