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

Coussens, Anna K; Wilkinson, Christopher R; Hughes, Ian P; Morris, C Phillip; van Daal, Angela; Anderson, Peter J; Powell, Barry C

doi:10.1186/1471-2164-8-458

BMC Genomics

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	Coronal^a Lambdoid^a	Metopic^a
	#36	Unicoronal synostosis	M	3	No FGFR or TWIST1		Coronal^a	Coronal^a Sagittal
	#46	Sagittal synostosis	M	5	No FGFR or TWIST1	Sagittal		Coronal Lambdoid^a Metopic^a
	#50	Sagittal synostosis	M	6	No FGFR or TWIST1	Sagittal		Coronal
	#58	Sagittal synostosis	M	7	No FGFR or TWIST1	Sagittal^a	Sagittal^b	Sagittal^a Coronal Lambdoid^a
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	Coronal^c	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.

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ISSN: 1471-2164

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