Double heterozygous mutations of non-canonical splice (IVS1a + 5g > a) and His348Gln caused inherited coagulation factor VII deficiency.
- Author:
Qiu-Lan DING
1
;
Hong-Li WANG
;
Xue-Feng WANG
;
Ming-Shan WANG
;
Qi-Hua FU
;
Wen-Man WU
;
Yi-Qun HU
;
Zhen-Yi WANG
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Sequence; Base Sequence; Factor VII; genetics; Factor VII Deficiency; genetics; Heterozygote; Humans; Molecular Sequence Data; Mutation, Missense; RNA Splicing
- From: Chinese Journal of Hematology 2004;25(3):139-142
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the pathogenesis of inherited coagulation factor VII (FVII) deficiency.
METHODSThe diagnosis was validated by coagulant parameter assay. FVII gene mutations were analysed in the proband by DNA direct sequencing of PCR products of all exons, exon-intron boundaries and the 3', 5'untranslated sequences. The mutations were confirmed by reverse sequencing. The ectopic transcripts of RT-PCR were used to confirm the characteristics of the mutation in non-canonical splice site (IVS1a + 5g > a).
RESULTSDouble heterozygous mutations in the propositus were identified: a T to G mutation at position 10961, resulting in His348Gln substitution, a non-canonical splice site (IVS1a + 5g > a) mutation, causing the new model of splice and frameshift mutation.
CONCLUSIONDouble heterozygous mutations of His348Gln and IVS1a + 5g > a were identified in a propositus, the splicing pattern of the IVS1a + 5g > a mutation was reported for the first time.
