Table 1

Phenotype and genotype data of Tunisian patients with FVII deficiency
Family Patient Age Symptoms FVII: C Mutation Location Domain Type Genotype Polymorphism
1 1 1992 Epistaxis, gastrointestinal, dental extraction 23% p.F328Y* Exon 8 Cataltytic Missense Heterozygous M1M1, P0/P0, A1/A1,H5
2 2 1996 Epistaxis, dental extraction, gingival, menorrhagia 26% p.M298I Exon 8 Cataltytic Missense Heterozygous M1M2, P0/P10, A1/A2,H5
3 3 1992 Asymptomatic ND p.R304Q Exon 8 Cataltytic Missense Homozygous M1M1, P0/P0, A1/A1,H5
4 4 1991 Hemarthroses, gingival, menorrhagia 40% IVS1a + 5 G > A Intron 1a Propeptide Splicing Heterozygous M1M1, P0/P0, A1/A1,H5
5 5 1985 Epistaxis, dental extraction, gingival ND p.G-39G Exon 1b Propeptide Splicing Heterozygous M1M1, P0/P10, A1/A2,H5
6 6 7 1980 1974 Epistaxis, dental extraction, gingival, Menorrhagia, epistaxis 2.5% 5% ND M1M1, P0/P0, A1/A1,H5
7 8 9 1990 1985 Menorrhagia, epistaxis dental extraction, gingival 4% 4% ND M1M1, P0/P0, A1/A1,H5
8 10 1963 Menorrhagia, epistaxis 5% ND M1M1, P0/P0, A1/A1,H7

*Novel mutation.

Nucleotide numbers are based on the full sequence published by O’hara et al 1987 using the A of the ATG initiator methionine as +1. Numbering of the amino acids is based on Genebank file NM-000131. Methionine is numbered as −60.

Polymorphisms: M1: Arg at position 353, M2: Gln at position 353. P0: no insertion of 10 bp at position-323 in promoter, P10: insertion of 10 bp at position-323 in promoter. A1: nt C at position −122 in promoter, A2: nt T at position −122 in promoter.

ND: not determined.

Elmahmoudi et al.

Elmahmoudi et al. Diagnostic Pathology 2012 7:92   doi:10.1186/1746-1596-7-92

Open Data