Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion

Table 1 Phenotypic and genetic features of three unrelated VWD families

Family	Members	VWF mutation	Genotype	APTT ratio	PT ratio	TT ratio	VWF: Ag	VWF: RCo	FVIII: C	BS
Family	Members	VWF mutation	Genotype	(sec)	(sec)	(sec)	(IU/dL)	(IU/dL)	(IU/dL)	BS
F1	Proband P1	G39R D141N	Compound heterozygous	2.24	1.07	0.97	1.0	2.3	2.0	6
F1	Father P1F	D141N	Heterozygous	1.09	1.15	1.24	48.4	50.2	73.5	0
F1	Mother P1M	G39R	Heterozygous	1.12	1.05	0.91	30.3	36.4	50.6	1
F2	Proband P2	K157E C1165R	Compound heterozygous	1.95	1.04	0.89	3.0	2.1	3.0	6
F2	Father P2F	K157E	Heterozygous	0.94	1.02	0.98	87.2	80.3	97.8	1
F3	Proband P3	C379G	Heterozygous	1.50	1.17	1.07	8.0	5.9	13.1	9
F3	Brother P3B	C379G	Heterozygous	1.21	1.00	0.90	14.3	13.6	25.3	3
Normal range	–	–	–	0.82–1.18	0.86–1.14	0.80–1.20	50–160	50–120	50–150	0–3 or 0–5^a

PT prothrombin time, APTT activated partial thromboplastin time, TT thrombin time, VWF:Ag, von Willebrand antigen, VWF:RCo von Willebrand factor ristocetin cofactor activity, FVIII:C factor VIII coagulant activity, BS bleeding scores
^a0–3 in male, 0–5 in female

ISSN: 1756-8722