Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region

Figures & data

Figure 1. Sequences of gene.1: Proband; 2-5: Proband’s family member; 6: Healthy individual (↓: FGG gene c.1058C>T heterozygous mutation).

Table 1. Coagulation function of proband and her family members.

Patients	Gender	Age (years)	Relationship to proband	APTT(s)	PT(s)	TT(s)	Fibrinogen (g/L)
							Clauss method	Immune turbidimetry method
Proband	Female	45	–	27.3	12.2	15.2	0.75	1.59
Member 1	Female	55	Sister	26.9	11.9	14.6	0.67	2.35
Member 2	Male	58	Brother	25.2	12.5	13.5	0.74	1.96
Member 3	Male	53	Brother	26.7	12.2	15	0.67	1.92
Member 4	Female	11	Daughter	35.1	13.7	16.6	0.56	1.57
Reference range	–	–	–	23–40	9–15	9–15	2–4	2–4

Figure 2. Fibrin polymerization curves.

Figure 3. Fibrin clot lysis curves.

Figure 4. Thromboelastography. 1: Healthy individual; 2-6: Proband and her family members.

Table 2. Thromboelastography in the proband, her family members, and healthy individual.

Object	K^a (min)	Angle^b (°)	CI^c
Healthy individual	2.3	61.5	0.9
Proband	4.1	53.1	−2.0
Member 1	3.2	52.7	−2.6
Member 2	3.4	53.2	−1.8
Member 3	3.5	54.3	−1.8
Member 4	4.3	50.9	−3.0
Reference range	1–3	53–72	−3-3

^a K value is the time when the strength of blood clot reaches 20 mm.

^b Angle value is the angle between tangent line and horizontal line from the point of clot formation to the maximum curve radian of the figure.

^c CI: comprehensive coagulation index.

Figure 5. Scanning electron microscopy of fibrin clot. A: Healthy individual; B: Proband.

Figure 6. Analysis of the γAla327Val mutation with protein modelling. A: Healthy individual; B: Proband.