Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia

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.

ISSN: 1746-1596