Factor XI gene mutations in factor XI deficient patients of the Czech Republic

Giancarlo Castaman, Sofia H. Giacomelli, David Habart, Rosanna Asselta, Stefano Duga, Francesco Rodeghiero

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder characterized by bleeding symptoms mainly associated with injury or surgery. Although most of the FXI gene mutations in Ashkenazi Jews are represented by the Glu117stop or Phe283Leu mutations, considerable genetic heterogeneity has been reported in other populations. We report here the genotypic characterization of four families with severe inherited FXI deficiency from the Czech Republic. Seven different gene mutations (three novel) were identified, thus, excluding the existence of a major founder effect in this population. Interestingly, both Glu117stop and Phe283Leu were detected once, further demonstrating the occurrence of these mutations also outside the Jewish populations. In conclusion, we confirm that FXI deficiency in non-Jewish populations is because of different gene mutations; however, the presence of the Glu117stop and Phe283Leu mutations suggests that genetic testing in FXI-deficient patients can start with these two point mutations.

Original languageEnglish
Pages (from-to)916-919
Number of pages4
JournalAmerican Journal of Hematology
Volume83
Issue number12
DOIs
Publication statusPublished - Dec 2008

Fingerprint

Factor XI
Czech Republic
Factor XI Deficiency
Mutation
Genes
Population
Inherited Blood Coagulation Disorders
Founder Effect
Jews
Genetic Heterogeneity
Genetic Testing
Point Mutation
Hemorrhage
Wounds and Injuries

ASJC Scopus subject areas

  • Hematology

Cite this

Factor XI gene mutations in factor XI deficient patients of the Czech Republic. / Castaman, Giancarlo; Giacomelli, Sofia H.; Habart, David; Asselta, Rosanna; Duga, Stefano; Rodeghiero, Francesco.

In: American Journal of Hematology, Vol. 83, No. 12, 12.2008, p. 916-919.

Research output: Contribution to journalArticle

Castaman, Giancarlo ; Giacomelli, Sofia H. ; Habart, David ; Asselta, Rosanna ; Duga, Stefano ; Rodeghiero, Francesco. / Factor XI gene mutations in factor XI deficient patients of the Czech Republic. In: American Journal of Hematology. 2008 ; Vol. 83, No. 12. pp. 916-919.
@article{a9b77af5b2dc4a0fa8f0759bea269ef0,
title = "Factor XI gene mutations in factor XI deficient patients of the Czech Republic",
abstract = "Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder characterized by bleeding symptoms mainly associated with injury or surgery. Although most of the FXI gene mutations in Ashkenazi Jews are represented by the Glu117stop or Phe283Leu mutations, considerable genetic heterogeneity has been reported in other populations. We report here the genotypic characterization of four families with severe inherited FXI deficiency from the Czech Republic. Seven different gene mutations (three novel) were identified, thus, excluding the existence of a major founder effect in this population. Interestingly, both Glu117stop and Phe283Leu were detected once, further demonstrating the occurrence of these mutations also outside the Jewish populations. In conclusion, we confirm that FXI deficiency in non-Jewish populations is because of different gene mutations; however, the presence of the Glu117stop and Phe283Leu mutations suggests that genetic testing in FXI-deficient patients can start with these two point mutations.",
author = "Giancarlo Castaman and Giacomelli, {Sofia H.} and David Habart and Rosanna Asselta and Stefano Duga and Francesco Rodeghiero",
year = "2008",
month = "12",
doi = "10.1002/ajh.21286",
language = "English",
volume = "83",
pages = "916--919",
journal = "American Journal of Hematology",
issn = "0361-8609",
publisher = "Wiley-Liss Inc.",
number = "12",

}

TY - JOUR

T1 - Factor XI gene mutations in factor XI deficient patients of the Czech Republic

AU - Castaman, Giancarlo

AU - Giacomelli, Sofia H.

AU - Habart, David

AU - Asselta, Rosanna

AU - Duga, Stefano

AU - Rodeghiero, Francesco

PY - 2008/12

Y1 - 2008/12

N2 - Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder characterized by bleeding symptoms mainly associated with injury or surgery. Although most of the FXI gene mutations in Ashkenazi Jews are represented by the Glu117stop or Phe283Leu mutations, considerable genetic heterogeneity has been reported in other populations. We report here the genotypic characterization of four families with severe inherited FXI deficiency from the Czech Republic. Seven different gene mutations (three novel) were identified, thus, excluding the existence of a major founder effect in this population. Interestingly, both Glu117stop and Phe283Leu were detected once, further demonstrating the occurrence of these mutations also outside the Jewish populations. In conclusion, we confirm that FXI deficiency in non-Jewish populations is because of different gene mutations; however, the presence of the Glu117stop and Phe283Leu mutations suggests that genetic testing in FXI-deficient patients can start with these two point mutations.

AB - Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder characterized by bleeding symptoms mainly associated with injury or surgery. Although most of the FXI gene mutations in Ashkenazi Jews are represented by the Glu117stop or Phe283Leu mutations, considerable genetic heterogeneity has been reported in other populations. We report here the genotypic characterization of four families with severe inherited FXI deficiency from the Czech Republic. Seven different gene mutations (three novel) were identified, thus, excluding the existence of a major founder effect in this population. Interestingly, both Glu117stop and Phe283Leu were detected once, further demonstrating the occurrence of these mutations also outside the Jewish populations. In conclusion, we confirm that FXI deficiency in non-Jewish populations is because of different gene mutations; however, the presence of the Glu117stop and Phe283Leu mutations suggests that genetic testing in FXI-deficient patients can start with these two point mutations.

UR - http://www.scopus.com/inward/record.url?scp=56749134139&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=56749134139&partnerID=8YFLogxK

U2 - 10.1002/ajh.21286

DO - 10.1002/ajh.21286

M3 - Article

C2 - 18839438

AN - SCOPUS:56749134139

VL - 83

SP - 916

EP - 919

JO - American Journal of Hematology

JF - American Journal of Hematology

SN - 0361-8609

IS - 12

ER -