How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency
-
Hojat Shahraki
,
Akbar Dorgalaleh
,
Majid Fathi
,
Shadi Tabibian
,
Shahram Teimourian
,
Hasan Mollanoori
,
Alireza Khiabani
,
Farhad Zaker
Abstract
Abstract
Congenital factor XIII (FXIII) deficiency is an extremely rare bleeding disorder (RBD) with estimated prevalence of one per 2 million in the general population. The disorder causes different clinical manifestations such as intracranial hemorrhage (ICH), recurrent miscarriage, umbilical cord bleeding, etc. High incidence of the disorder might be due to founder effect. To assess founder effect, haplotype analysis is an important step. For this purpose, suitable and reliable genetic markers such as microsatellites (Hum FXIII01 and HumFXIIIA02) and single nucleotide polymorphisms (SNP) are suggested. In the present study we tried to describe evaluation of founder effect in patients with congenital FXIII deficiency via haplotype analysis using suitable genetic markers.
1. Dorgalaleh A, Tabibian S, Hosseini MS, et al. Diagnosis of factor XIII deficiency. Hematology. 2016;21(7):430-9.
2. Dorgalaleh A, Tabibian S, Hosseini S, et al. Guidelines for laboratory diagnosis of factor XIII deficiency. Blood Coagul Fibrinolysis. 2016;27(4):361-4.
3. Naderi M, Dorgalaleh A, Alizadeh S, et al. Clinical manifestations and management of life-threatening bleeding in the largest group of patients with severe factor XIII deficiency. Int J Hematol. 2014;100(5):443-9.
4. Levy JH, Greenberg C. Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. Transfusion. 2013;53(5):1120-31.
5. Karimi M, Bereczky Z, Cohan N, et al. Factor XIII deficiency. Semin Thromb Hemost. 2009; 35(4): 426-38.
6. Trinh CH, Sh ElSayed W, Eshghi P, et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south‐east of Iran. B J Haem. 2008;140(5):581-4.
7. Ivaskevicius V, Seitz R, Kohler HP, et al. International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost. 2007;97(06):914-21.
8. Vieira MLC, Santini L, Diniz AL, et al. Microsatellite markers: what they mean and why they are so useful. Genet Mol Biol. 2016;39(3):312-28.
9. Stram DO, Seshan VE. Multi-SNP haplotype analysis methods for association analysis. Methods Mol Biol. 2012;850:423-52.
10. Pulst SM. Genetic linkage analysis. Arc Neurol. 1999;56(6):667-72.
11. Dorgalaleh A, Kazemi A, Zaker F, et al. Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. Clin Lab. 2016;62(4):491-8.
12. Dorgalaleh A, Tabibian S, Shams M, et al. Laboratory diagnosis of factor XIII deficiency in developing countries: an Iranian experience. Lab Med. 2016;47(3):220-6.
13. Jennings I, Kitchen S, Woods T, et al. Problems relating to the laboratory diagnosis of factor XIII deficiency: a UK NEQAS study. J Thromb Haemost . 2003;1(12):2603-8.
14. Dorgalaleh A, Rashidpanah J. Blood coagulation factor XIII and factor XIII deficiency. Blood Rev. 2016;30(6):461-75.
15. Peyvandi F. Carrier detection and prenatal diagnosis of hemophilia in developing countries. Semin Thromb Hemost. 2005; 31(5):544-54.
16. Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia. 2006; 12 Suppl 3:82-9.
17. Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia. 2008;14(6):1190-200.
18. Biswas A, Ivaskevicius V, Seitz R, et al. An update of the mutation profile of Factor 13 A and B genes. Blood Rev. 2011;25(5):193-204.
19. Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: diagnosis and treatment. Blood. 2015;125(13):2052-61.
20. Ferreira MA. Linkage analysis: principles and methods for the analysis of human quantitative traits. Twin Res. 2004;7(5):513-30.
21. Eshghi P, Cohan N, Lak M, et al. Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran. Clin Appl Thromb Hemost. 2012;18(1):100-3.
22. Naderi M, Dorgalaleh A, Alizadeh S, et al. Molecular analysis of the largest group of patients with factor XIII deficiency in southeast of Iran. Blood. 2013;122(21):4780.
23. Peyvandi F, Tagliabue L, Menegatti M, et al. Phenotype‐genotype characterization of 10 families with severe a subunit factor XIII deficiency. Hum Mutat. 2004; 23(1):98.
24. Anwar R, Gallivan L, Miloszewski KJ, et al. Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene. Thromb Haemost. 2000;84(10):591-4.
25. Anwar R, Gallivan L, Richards M, et al. Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. Haematologica. 2005;90(12):1718-20.
26. Vysokovsky A, Saxena R, Landau M, et al. Seven novel mutations in the factor XIII A‐subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. J Thromb Haemost. 2004;2(10):1790-7.
27. Aslam S, Standen G, Khurshid M, et al. Molecular analysis of six factor XIII-A-deficient families in Southern Pakistan. Br J Haematol. 2000;109(2):463.
28. El Mahmoudi H, Amor M, Gouider E, et al. Small insertion (c. 869insC) within F13A gene is dominant in Tunisian patients with inherited FXIII deficiency due to ancient founder effect. Haemophilia. 2009;15(5):1176-9.
29. Louhichi N, Medhaffar M, HadjSalem I, et al. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect. Ann Hematol. 2010;89(5):499-504.
30. Schroeder V, Meili E, Cung T, et al. Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder. Thromb Haemost. 2006;95(01):77-84.
31. Mikkola H, Yee VC, Syrjala M, et al. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood. 1996;87(1):141-51.
32. Mikkola H, Syrjala M, Rasi V, et al. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood. 1994; 84(2):517-25.
33. Palotie A, Mikkola H, Muszbek L, et al. Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins. Thromb Haemost. 1997;77(06):1068-72.
34. Kulkarni BP, Nair SB, Vijapurkar M, et al. Molecular pathology of rare bleeding disorders (RBDs) in India: A systematic review. PloS one. 2014;9(10):e108683.
35. Anwar R, Gallivan L, Miloszewski KJ, et al. Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: effects of these mutations on FXIIIA RNA processing and protein structure. Br J Haematol. 1998;103(2):425-8.
36. Vreken P, Niessen RW, Peters M, et al. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost. 1995;74(02):584-9.
37. Dorgalaleh A, Tabibian S, Shams M, et al. A unique factor XIII mutation in southeastern Iran with an unexpectedly high prevalence: Khash factor XIII. Semin Thromb Hemost. 2019 ;45(1):43-49.
38. Asakai R, Chung DW, Davie EW, et al. Factor XI deficiency in Ashkenazi jews in Israel. N Engl J Med. 1991;325(3):153-8.
39. Butler JM. Short tandem repeat analysis for human identity testing. Curr Protoc Hum Genet. 2004;41(1): Chapter 14:Unit 14.8.
40. Chanock S. Candidate genes and single nucleotide polymorphisms (SNPs) in the study of human disease. Dis Markers. 2001;17(2):89-98.
41. Saint Pierre A, Génin E. How important are rare variants in common disease? Brief Funct Genomics. 2014;13(5):353-61.
42. Silberstein M, Weissbrod O, Otten L, et al. A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees. Bioinformatics. 2012;29(2):197-205.
43. Panagiotou OA, Evangelou E, Ioannidis JP. Genome-wide significant associations for variants with minor allele frequency of 5% or less—an overview: A HuGE review. Am J Epidemiol. 2010;172(8):869-889.
44. Kangsadalampai S, Coggan M, Çaglayan SH, et al. Application of HUMF13A01 (AAAG) n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency. Thromb Haemost. 1996;76(06):0879-82.
45. Li Y-C, Korol AB, Fahima T, et al. Microsatellites within genes: structure, function, and evolution. Mol Biol Evol. 2004;21(6):991-1007.
46. Frayling I.M. ME, Butler R. PCR-Based Methods for Mutation Detection. In: Tsongalis WBCJ. Molecular Diagnostics. Humana Press; 2006. p. 510.
47. Naderi M, Dorgalaleh A, Tabibian S, et al. Current understanding in diagnosis and management of factor XIII deficiency. Iran J Ped Hematol Oncol. 2013;3(4):164.
48. Dorgalaleh A, Farshi Y, Alizadeh S, et al. Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. J Thromb Haemost. 2015;13(9):1735-6.
49. Dorgalaleh A, Assadollahi V, Tabibian S, et al. Molecular basis of congenital factor XIII deficiency in Iran. Clin Appl Thromb Hemost. 2018;24(2):210-6.
50. Hammond HA, Jin L, Zhong Y, et al. Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet. 1994;55(1):175.
51. Sprecher CJ, Puers C, Lins AM, et al. General approach to analysis of polymorphic short tandem repeat loci. Biotechniques. 1996;20(2):266-76.
52. Hearne CM, Ghosh S, Todd JA. Microsatellites for linkage analysis of genetic traits. Trends Genet. 1992;8(8):288-94.
53. Polymeropoulos M, Rath D, Xiao H, et al. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res. 1991;19(15):4306.
54. Twyman RM, Primrose SB. Techniques patents for SNP genotyping. Pharmacogenomics. 2003;4(1):67-79.
55. Norrgard K, Schultz J. Using SNP data to examine human phenotypic differences. Nature Education. 2008;1(1):85.
56. Shahraki H, Fathi M, Tabibian S, et al. Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms. Iran J Ped Hematol Oncol. 2020;10(2):114-30.
2. Dorgalaleh A, Tabibian S, Hosseini S, et al. Guidelines for laboratory diagnosis of factor XIII deficiency. Blood Coagul Fibrinolysis. 2016;27(4):361-4.
3. Naderi M, Dorgalaleh A, Alizadeh S, et al. Clinical manifestations and management of life-threatening bleeding in the largest group of patients with severe factor XIII deficiency. Int J Hematol. 2014;100(5):443-9.
4. Levy JH, Greenberg C. Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. Transfusion. 2013;53(5):1120-31.
5. Karimi M, Bereczky Z, Cohan N, et al. Factor XIII deficiency. Semin Thromb Hemost. 2009; 35(4): 426-38.
6. Trinh CH, Sh ElSayed W, Eshghi P, et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south‐east of Iran. B J Haem. 2008;140(5):581-4.
7. Ivaskevicius V, Seitz R, Kohler HP, et al. International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost. 2007;97(06):914-21.
8. Vieira MLC, Santini L, Diniz AL, et al. Microsatellite markers: what they mean and why they are so useful. Genet Mol Biol. 2016;39(3):312-28.
9. Stram DO, Seshan VE. Multi-SNP haplotype analysis methods for association analysis. Methods Mol Biol. 2012;850:423-52.
10. Pulst SM. Genetic linkage analysis. Arc Neurol. 1999;56(6):667-72.
11. Dorgalaleh A, Kazemi A, Zaker F, et al. Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. Clin Lab. 2016;62(4):491-8.
12. Dorgalaleh A, Tabibian S, Shams M, et al. Laboratory diagnosis of factor XIII deficiency in developing countries: an Iranian experience. Lab Med. 2016;47(3):220-6.
13. Jennings I, Kitchen S, Woods T, et al. Problems relating to the laboratory diagnosis of factor XIII deficiency: a UK NEQAS study. J Thromb Haemost . 2003;1(12):2603-8.
14. Dorgalaleh A, Rashidpanah J. Blood coagulation factor XIII and factor XIII deficiency. Blood Rev. 2016;30(6):461-75.
15. Peyvandi F. Carrier detection and prenatal diagnosis of hemophilia in developing countries. Semin Thromb Hemost. 2005; 31(5):544-54.
16. Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia. 2006; 12 Suppl 3:82-9.
17. Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia. 2008;14(6):1190-200.
18. Biswas A, Ivaskevicius V, Seitz R, et al. An update of the mutation profile of Factor 13 A and B genes. Blood Rev. 2011;25(5):193-204.
19. Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: diagnosis and treatment. Blood. 2015;125(13):2052-61.
20. Ferreira MA. Linkage analysis: principles and methods for the analysis of human quantitative traits. Twin Res. 2004;7(5):513-30.
21. Eshghi P, Cohan N, Lak M, et al. Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran. Clin Appl Thromb Hemost. 2012;18(1):100-3.
22. Naderi M, Dorgalaleh A, Alizadeh S, et al. Molecular analysis of the largest group of patients with factor XIII deficiency in southeast of Iran. Blood. 2013;122(21):4780.
23. Peyvandi F, Tagliabue L, Menegatti M, et al. Phenotype‐genotype characterization of 10 families with severe a subunit factor XIII deficiency. Hum Mutat. 2004; 23(1):98.
24. Anwar R, Gallivan L, Miloszewski KJ, et al. Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene. Thromb Haemost. 2000;84(10):591-4.
25. Anwar R, Gallivan L, Richards M, et al. Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. Haematologica. 2005;90(12):1718-20.
26. Vysokovsky A, Saxena R, Landau M, et al. Seven novel mutations in the factor XIII A‐subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. J Thromb Haemost. 2004;2(10):1790-7.
27. Aslam S, Standen G, Khurshid M, et al. Molecular analysis of six factor XIII-A-deficient families in Southern Pakistan. Br J Haematol. 2000;109(2):463.
28. El Mahmoudi H, Amor M, Gouider E, et al. Small insertion (c. 869insC) within F13A gene is dominant in Tunisian patients with inherited FXIII deficiency due to ancient founder effect. Haemophilia. 2009;15(5):1176-9.
29. Louhichi N, Medhaffar M, HadjSalem I, et al. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect. Ann Hematol. 2010;89(5):499-504.
30. Schroeder V, Meili E, Cung T, et al. Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder. Thromb Haemost. 2006;95(01):77-84.
31. Mikkola H, Yee VC, Syrjala M, et al. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood. 1996;87(1):141-51.
32. Mikkola H, Syrjala M, Rasi V, et al. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood. 1994; 84(2):517-25.
33. Palotie A, Mikkola H, Muszbek L, et al. Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins. Thromb Haemost. 1997;77(06):1068-72.
34. Kulkarni BP, Nair SB, Vijapurkar M, et al. Molecular pathology of rare bleeding disorders (RBDs) in India: A systematic review. PloS one. 2014;9(10):e108683.
35. Anwar R, Gallivan L, Miloszewski KJ, et al. Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: effects of these mutations on FXIIIA RNA processing and protein structure. Br J Haematol. 1998;103(2):425-8.
36. Vreken P, Niessen RW, Peters M, et al. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost. 1995;74(02):584-9.
37. Dorgalaleh A, Tabibian S, Shams M, et al. A unique factor XIII mutation in southeastern Iran with an unexpectedly high prevalence: Khash factor XIII. Semin Thromb Hemost. 2019 ;45(1):43-49.
38. Asakai R, Chung DW, Davie EW, et al. Factor XI deficiency in Ashkenazi jews in Israel. N Engl J Med. 1991;325(3):153-8.
39. Butler JM. Short tandem repeat analysis for human identity testing. Curr Protoc Hum Genet. 2004;41(1): Chapter 14:Unit 14.8.
40. Chanock S. Candidate genes and single nucleotide polymorphisms (SNPs) in the study of human disease. Dis Markers. 2001;17(2):89-98.
41. Saint Pierre A, Génin E. How important are rare variants in common disease? Brief Funct Genomics. 2014;13(5):353-61.
42. Silberstein M, Weissbrod O, Otten L, et al. A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees. Bioinformatics. 2012;29(2):197-205.
43. Panagiotou OA, Evangelou E, Ioannidis JP. Genome-wide significant associations for variants with minor allele frequency of 5% or less—an overview: A HuGE review. Am J Epidemiol. 2010;172(8):869-889.
44. Kangsadalampai S, Coggan M, Çaglayan SH, et al. Application of HUMF13A01 (AAAG) n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency. Thromb Haemost. 1996;76(06):0879-82.
45. Li Y-C, Korol AB, Fahima T, et al. Microsatellites within genes: structure, function, and evolution. Mol Biol Evol. 2004;21(6):991-1007.
46. Frayling I.M. ME, Butler R. PCR-Based Methods for Mutation Detection. In: Tsongalis WBCJ. Molecular Diagnostics. Humana Press; 2006. p. 510.
47. Naderi M, Dorgalaleh A, Tabibian S, et al. Current understanding in diagnosis and management of factor XIII deficiency. Iran J Ped Hematol Oncol. 2013;3(4):164.
48. Dorgalaleh A, Farshi Y, Alizadeh S, et al. Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. J Thromb Haemost. 2015;13(9):1735-6.
49. Dorgalaleh A, Assadollahi V, Tabibian S, et al. Molecular basis of congenital factor XIII deficiency in Iran. Clin Appl Thromb Hemost. 2018;24(2):210-6.
50. Hammond HA, Jin L, Zhong Y, et al. Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet. 1994;55(1):175.
51. Sprecher CJ, Puers C, Lins AM, et al. General approach to analysis of polymorphic short tandem repeat loci. Biotechniques. 1996;20(2):266-76.
52. Hearne CM, Ghosh S, Todd JA. Microsatellites for linkage analysis of genetic traits. Trends Genet. 1992;8(8):288-94.
53. Polymeropoulos M, Rath D, Xiao H, et al. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res. 1991;19(15):4306.
54. Twyman RM, Primrose SB. Techniques patents for SNP genotyping. Pharmacogenomics. 2003;4(1):67-79.
55. Norrgard K, Schultz J. Using SNP data to examine human phenotypic differences. Nature Education. 2008;1(1):85.
56. Shahraki H, Fathi M, Tabibian S, et al. Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms. Iran J Ped Hematol Oncol. 2020;10(2):114-30.
| Files | ||
| Issue | Vol 14, No 4 (2020) | |
| Section | Review Article(s) | |
| DOI | https://doi.org/10.18502/ijhoscr.v14i4.4480 | |
| Keywords | ||
| Factor XIII deficiency, Intracranial hemorrhage, Founder effect, Genetic Markers | ||
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How to Cite
1.
Shahraki H, Dorgalaleh A, Fathi M, Tabibian S, Teimourian S, Mollanoori H, Khiabani A, Zaker F. How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency. Int J Hematol Oncol Stem Cell Res. 2020;14(4):265-273.
