A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency

Figures & data

Figure 1. Pedigree chart of the inherited FXII-deficient family.

Table 1. Phenotypes and genotypes of the family members.

Family members	PT (s)	APTT (s)	FIB (g/L)	FXII:C (%)	FXII:Ag (%)	Met546ILe c.1638G > A
Proband (IV1)	12.7	101.0	2.58	1	1.0	Homozygote
Mother (III2)	13.1	45.8	3.24	45	50.1	Heterozygote
Wife (IV2)	13.2	36.5	2.89	98	103.2	Wild type
Son (V1)	12.7	46.1	2.98	41	45.1	Heterozygote
Daughter (V2)	13.3	49.2	2.36	38	43.1	Heterozygote
Normal range	12.6–14.4	29.0–43.0	2.00–4.00	72–113	72–113

Figure 2. The sequence diagrams of c.1638G > A. A is the forward sequencing of wild type, B is the heterozygous c.1638G > A and C is the homozygous c.1638G > A. The position of mutational base is indicated with an arrow.

Figure 3. The conservative analysis diagrams of the amino acid residues Met527.The targeted amino acid was indicated with an arrow.

Figure 4. Molecular Model diagrams of the mutation Mer527Ile. A is the wild type and B is the mutant type. The line in green represents hydrogen bond.