Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations

Journal of Medical Genetics

Volumn 48, Issue 9, 2011, Pages 618-628

  Tsangaris, E ^a   Klaassen, R ^b   Fernandez, C V ^c   Yanofsky, R ^d   Shereck, E ^e   Champagne, J ^f   Silva, M ^g   Lipton, J H ^h   Brossard, J ⁱ   Michon, B ^j   Abish, S ^k   Steele, M ^l   Ali, K ^m   Dower, N ⁿ   Athale, U ^o   Jardine, L ^p   Hand, J P ^q   Odame, I ^a   Canning, P ^a   Allen, C ^a   Carcao, M ^a   Beyene, J ^a   Roifman, C M ^a   Dror, Y ^a   more..

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c Izaak Walton Killam Hospital for Children   (Canada)

^d CANCERCARE MANITOBA   (Canada)

^e BC CHILDREN S HOSPITAL   (Canada)

^f UNIVERSITY OF MONTREAL   (Canada)

^g QUEEN S UNIVERSITY   (Canada)

^h PRINCESS MARGARET HOSPITAL   (Canada)

ⁱ CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^j LAVAL UNIVERSITY   (Canada)

^k MONTREAL CHILDREN S HOSPITAL   (Canada)

^l ALBERTA CHILDREN'S HOSPITAL   (Canada)

^m UNIVERSITY OF SASKATCHEWAN   (Canada)

ⁿ UNIVERSITY OF ALBERTA   (Canada)

^o MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^p CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

^q New Janeway Childrens Health and Rehabilitation Centre   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP G PROTEIN; PROTEIN RLP5; PROTEIN RPS19; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ANEMIA; APLASTIC ANEMIA; ARTICLE; BARTH SYNDROME; BLACKFAN DIAMOND ANEMIA; BONE MARROW BIOPSY; BONE MARROW DEPRESSION; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CYTOPENIA; DELAYED DIAGNOSIS; DYSKERATOSIS CONGENITA; EXON; FAMILY HISTORY; FANCONI ANEMIA; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENOTYPE; GLYCOGEN STORAGE DISEASE; HOMOZYGOSITY; HUMAN; INCIDENCE; INHERITANCE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEVERE CONGENITAL NEUTROPENIA; SHWACHMAN SYNDROME; TELOMERE; THROMBOCYTOPENIA;

ALLELES; ANEMIA, DIAMOND-BLACKFAN; BONE MARROW DISEASES; COHORT STUDIES; EXOCRINE PANCREATIC INSUFFICIENCY; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; GENETIC TESTING; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; LIPOMATOSIS; MUTATION; PROSPECTIVE STUDIES; PROTEINS; RIBOSOMAL PROTEINS;

EID: 80052580675     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2011.089821     Document Type: Article

References (34)

1. Dror Y. Inherited bone marrow failure syndromes. In: Arececi HS, ed. Pediatric Hematology. 3rd edn. Oxford: Blackwell Publishing, 2006:30-6.
2. Alter BP. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program 2007;2007:29-39.
3. Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010;150:179-88.
4. Teo JT, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Athale U, Jardine L, Hand JP, Tsangaris E, Odame I, Beyene J, Dror Y. Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. Pediatrics 2008;22:139-48.
5. Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999;21:169-75.
6. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JK. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003;33:97-101.
7. Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie 2008;90:122-30.
8. de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res 2009;668:11-19.
9. Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Barak AB, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP. Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica 2010;95:1300-7.
10. Ward AC, Gits J, Majeed F, Aprikyan AA, Lewis RS, OèSullivan LA, Freedman M, Shigdar S, Touw IP, Dale DC, Dror Y. Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. Br J Haematol 2008;142:653-6.
11. Watanabe K, Ambekar C, Wang H, Ciccolini A, Schimmer AD, Dror Y. SBDSdeficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 2009;14:77-89.
12. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Ginsberg D, Look AT, eds. Hematology of Infancy and Childhood. Philadelphia: W.B. Saunders, 2003:280-365.
13. Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007;110:1439-47.
14. Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 2007;110:1458-65.
15. Allman PR. In Rudolph A (ed): Pediatrics. New York: Appleton-Century Crofts; 1977. P 1111.
16. Menne TF, Goyenechea B, Sanchez-Puig N, Wood CC, Tonkin LM, Ancliff PJ, Brost RL, Costanzo M, Boone C, Warren AJ. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 2007;39:486-95.
17. Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, Dror Y. SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica 2008;93:363-71.
18. Wessels D, Srikantha T, Yi S, Kuhl S, Aravind L, Soll DR. The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. J Cell Sci 2006;119:370-9.
19. Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest 2008;118:1511-18.
20. Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008;112:1582-92.
21. Gazda HT, Sheen MR, Vlachos A, Choesmel V, OèDonohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 2008;83:769-80.
22. Doherty L, Sheen MR, Vlachos A, Choesmel V, OèDonohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 2010;86:222-8.
23. Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat 2009;30:321-7.
24. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008;82:501-9.
25. Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet 2007;16:1619-29.
26. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998;19:32-8.
27. Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A 2008;105:8073-8.
28. Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 2007;110:4198-205.
29. Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone PJ, Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2005;34:257-63.
30. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason P, Dokal I. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-5.
31. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008;112:3594-600.
32. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999;23:433-6.
33. Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 2009;147:535-42.
34. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zaidler C, Grimbacher M, Welte K. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007;39:86-92.