Table 1 |
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| 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. Diagnostic Pathology 2012 7:92 doi:10.1186/1746-1596-7-92
