Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome

Table 1

Clinical detail of the patients with FBN1 mutation in this study.

Individuals	Pedigree 1		Pedigree 2			Pedigree 3
	III: 17	IV: 7	II: 6	II: 6	III: 2	II: 2	III: 1
Age (years)	33	10	45	41	14	29	5
Gender	Male	Female	Male	Male	Male	Female	Female
Height (cm)	187	151	173	175	185	182	130
Ocular system
Ectopia lentis	−	−	+	−	−	−	−
Myopia	+	+	−	−	+	−	−
Cardiovascular system		−
Diameter of aortic root (mm)	45	30	60	67	36	43
Aortic dissection	+	−	−	−	−	−
Mitral valve prolapse	−	−	−	+	+	−
Tricuspid valve prolapse	−	−	−	−	+	−
LVED (mm)	53	41	72	81	58	49
LVEF (%)	60	62	50	35	54	66
Systemic features
Thumb sign	+	+	−	−	+	+
Wrist sign	+	+	−	−	+	+
Thin body	+	+	+	+	+	+
Arachnodactyly	+	+	−	−	+	+
Pectus excavatum; scoliosis	−	−	−	−	−	−	+

represents unknown information.