Thromb Haemost. 2000 Nov;84(5):833-40.

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.

Ventura C, Santos AI, Tavares A, Gago T, Lavinha J, McVey JH, David D.

Source

Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.

Abstract

Coagulation factor XI (FXI) deficiency is an inherited autosomal recessive mild bleeding disorder. In this study, we report the molecular genetic analysis of FXI deficiency in six unrelated families of Portuguese origin. The Jewish type II mutation was found in two families, of seemingly Portuguese origin. Haplotype analysis in these families demonstrated that this mutation is of Jewish origin. In the remaining families, five novel FXI mutations have been identified. Two of these mutations (FXI IVS K -10T-->A and FXI 1026G-->T, cd 324) affect the FXI pre-mRNA splicing. A further two (FXI 307 ins AAGCAAT, cd 85 and FXI 1072 del A, cd 340) introduce frameshifts leading to premature termination codons. The FXI splicing mutation, 1026G-->T cd 324, was found in compound heterozygosity with missense mutation FXI K518N. Analysis of the FXI mRNA from the latter genotype demonstrated new donor splice site usage. All reported mutations most likely result in functional null-alleles. In addition, three novel polymorphisms have been identified: at nt -138 in intron A, at codon D125 in exon 5 and at codon T249 in exon 8.

PMID:: 11127865; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

Factor XI

LinkOut - more resources

Full Text Sources

Schattauer Verlag - PDF

Supplemental Content

Save items

Related citations in PubMed

Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. [J Thromb Haemost. 2004]
Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.
Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E. J Thromb Haemost. 2004 Jan; 2(1):71-6.
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. [Thromb Haemost. 2008]
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. Thromb Haemost. 2008 Mar; 99(3):523-30.
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. [Blood Coagul Fibrinolysis. 2006]
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, et al. Blood Coagul Fibrinolysis. 2006 Jan; 17(1):69-73.
Review Factor XI Deficiency. [Semin Thromb Hemost. 2009]
Review Factor XI Deficiency.
Duga S, Salomon O. Semin Thromb Hemost. 2009 Jun; 35(4):416-25. Epub 2009 Jul 13.
Review Factor XI deficiency. [Haemophilia. 2008]
Review Factor XI deficiency.
Gomez K, Bolton-Maggs P. Haemophilia. 2008 Nov; 14(6):1183-9. Epub 2008 Feb 27.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.

Recent activity

Clear Turn Off Turn On

Molecular genetic analysis of factor XI deficiency: identification of five novel...
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.
Thromb Haemost. 2000 Nov ;84(5):833-40.

PubMed
Manifest diabetes and keratoconus: a retrospective case-control study.
Manifest diabetes and keratoconus: a retrospective case-control study.
Graefes Arch Clin Exp Ophthalmol. 2000 Oct ;238(10):822-5.

PubMed
The safety and efficacy of short course (5-day) moxifloxacin vs. azithromycin in...
The safety and efficacy of short course (5-day) moxifloxacin vs. azithromycin in the treatment of patients with acute exacerbation of chronic bronchitis.
Respir Med. 2000 Nov ;94(11):1029-37.

PubMed
Abstinence symptoms during withdrawal from chronic marijuana use.
Abstinence symptoms during withdrawal from chronic marijuana use.
Exp Clin Psychopharmacol. 2000 Nov ;8(4):483-92.

PubMed
Comparative behavioral effects of clorgyline and pargyline in man: a preliminary...
Comparative behavioral effects of clorgyline and pargyline in man: a preliminary evaluation.
Psychopharmacology (Berl). 1979 Apr 11 ;62(2):123-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: