Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations)

Iranian Journal of Allergy, Asthma and Immunology

Volumn 12, Issue 1, 2013, Pages 86-92

  Alizadeh, Zahra ^a   Fazlollahi, Mohammad Reza ^a   Houshmand, Massoud ^b   Maddah, Marzieh ^a   Chavoshzadeh, Zahra ^c   Hamidieh, Amir Ali ^d   Shamsian, Bibi Shahin ^e   Eshghi, Payman ^e   Pour, Samaneh Bolandghamat ^a   Jahromi, Hoda Sadaaie ^a   Mansouri, Mahboobeh ^c   Movahedi, Masoud ^f   Nayebpour, Mohsen ^g   Pourpak, Zahra ^a,f   Moin, Mostafa ^a,f  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING   (Iran)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Gene mutation; Neutropenia; Severe congenital neutropenia

Indexed keywords

BIOLOGICAL MARKER; ELANE PROTEIN; GENOMIC DNA; HAX1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ASTHMA; CHILD; CLINICAL ARTICLE; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; IRAN; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA;

3' FLANKING REGION; 5' FLANKING REGION; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHILD; CONSANGUINITY; EXONS; FEMALE; GLUCOSE-6-PHOSPHATASE; HUMANS; IRAN; LEUKOCYTE ELASTASE; MALE; MUTATION; NEUTROPENIA; NEUTROPHILS; SEQUENCE ANALYSIS, DNA;

EID: 84875492764     PISSN: 17351502     EISSN: 17355249     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Boxer LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007;49(5):609-14. Epub 2007/06/23. (Pubitemid 350194422)
2. Klein C. Molecular basis of congenital neutropenia. Haematologica. 2009;94(10):1333.
3. Ancliff P, Gale R, Liesner R, Hann I, Linch D. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood. 2001;98(9):2645.
4. Skokowa J, Fobiwe JP, Dan L, Thakur BK, Welte K. Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1. Blood. 2009;114(14):3044-51. Epub 2009/07/22.
5. Dale D, Person R, Bolyard A, Aprikyan A, Bos C, Bonilla M, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96(7):2317.
6. Shiohara M, Shigemura T, Saito S, Tanaka M, Yanagisawa R, Sakashita K, et al. Ela2 mutations and clinical manifestations in familial congenital neutropenia. J Pediatr Hematol Oncol. 2009;31(5):319-24. Epub 2009/05/06.
7. Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schaffer AA, Diestelhorst J, et al. HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. Am J Med Genet A. 2010;152A(12):3157-63. Epub 2010/11/26.
8. Boztug K, Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol. 2009;21(5):472-80. Epub 2009/09/29.
9. Boztug K, Klein C. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr. 2011;23(1):21-6. Epub 2011/01/06.
10. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009;360(1):32-43. Epub 2009/01/02.
11. Carlsson G, Elinder G, Malmgren H, Trebinska A, Grzybowska E, Dahl N, et al. Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. Pediatr Blood Cancer. 2009;53(6):1143-6. Epub 2009/06/06.
12. Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. Digenic mutations in severe congenital neutropenia. Haematologica. 2010;95(7):1207-10. Epub 2010/03/12.
13. Lanciotti M, Indaco S, Bonanomi S, Coliva T, Mastrodicasa E, Caridi G, et al. Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. Haematologica. 2010;95(1):168-9. Epub 2010/01/13.
14. Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet. 2008;45(12):802-7. Epub 2008/07/10.
15. Arostegui JI, de Toledo JS, Pascal M, Garcia C, Yague J, Diaz de Heredia C. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood. 2009;114(8):1718-9. Epub 2009/08/22.
16. Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet. 2011;19(1):18-22. Epub 2010/08/19.
17. Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet. 2003;34(3):308-12. Epub 2003/06/05. (Pubitemid 36792864)
18. Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009;147(4):535-42. Epub 2009/09/25.
19. Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009;144(4):459-67. Epub 2009/01/06.
20. Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008;140(2):210-3. Epub 2007/11/22. (Pubitemid 350265043)
21. Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood. 2007;109(1):93.
22. Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol. 2007;27(5):525-33. Epub 2007/06/26. (Pubitemid 47319259)
23. Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z. Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. Iranian journal of allergy, asthma, and immunology. 2011;10(3):227-30. Epub 2011/09/06.
24. Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004;103(11):4119-25. Epub 2004/02/14. (Pubitemid 38685352)
25. Salehi T, Fazlollahi MR, Maddah M, Nayebpour M, Tabatabaei Yazdi M, Alizadeh Z, et al. Prevention and Control of Infections in Patients with Severe Congenital Neutropenia; A Follow up Study. Iranian journal of allergy, asthma, and immunology. 2012;11(1):51-6. Epub 2012/03/20.
26. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011;6:26. Epub 2011/05/21.
27. Kollner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood. 2006;108(2):493-500. Epub 2006/03/23. (Pubitemid 44061347)
28. Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007;109(5):1817-24. Epub 2006/10/21. (Pubitemid 46348175)
29. Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Annals of human biology. 2004;31(2):263-9. Epub 2004/06/19. (Pubitemid 38504195)
30. Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A. Kostmann disease with developmental delay in three patients. Eur J Pediatr. 2010;169:759-762
31. Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood. 2007;109(1):93-9. Epub 2006/09/21. (Pubitemid 46053048)