Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

Clinical Genetics

Volumn 79, Issue 5, 2011, Pages 448-458

  Hashmi, S K ^a   Allen, C ^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   Samson, Y ^j   Abish, S ^k   Steele, M ^l   Ali, K ^m   Dower, N ⁿ   Athale, U ^o   Jardine, L ^p   Hand, J P ^q   Beyene, J ^r   Dror, Y ^a  

^a UNIVERSITY OF TORONTO   (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 CHILDREN S HOSPITAL   (Canada)

^p CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

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

^r HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

more..

Author keywords

Diamond Blackfan anemia; Diamond syndrome; Dyskeratosis congenita; Fanconi anemia; Genetic; Genotype; Inherited bone marrow failure syndromes; Kostmann neutropenia; Phenotype correlation; Shwachman

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; HEMOGLOBIN F;

ACUTE GRANULOCYTIC LEUKEMIA; ANEMIA; APLASTIC ANEMIA; ARTICLE; BLACKFAN DIAMOND ANEMIA; BONE MARROW DEPRESSION; CLINICAL FEATURE; COMPARATIVE STUDY; DEMOGRAPHY; DISEASE SEVERITY; DYSKERATOSIS CONGENITA; ENZYME REPLACEMENT; ERYTHROCYTE TRANSFUSION; FANCONI ANEMIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEMATOLOGIC DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INHERITED BONE MARROW FAILURE SYNDROME; MAJOR CLINICAL STUDY; MALE; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; PANCREAS DISEASE; PRIORITY JOURNAL; SEVERE CONGENITAL NEUTROPENIA; SEX DIFFERENCE; SHWACHMAN SYNDROME; SURVIVAL RATE; SYMPTOM;

ALLELES; BONE MARROW DISEASES; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; GENETIC ASSOCIATION STUDIES; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; MALE; MUTATION;

EID: 79953742356     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01468.x     Document Type: Article

References (20)

1. Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT. Shwachman's syndrome. A review of 21 cases. Arch Dis Child 1980: 55(5): 331-347.
2. Burke V, Colebatch JH, Anderson CM, Simons MJ. Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch Dis Child 1967: 42: 147-157.
3. Pringle EM, Young WF, Haworth EM. Syndrome of pancreatic insufficiency, blood dyscrasia, and metaphyseal dysplasia. Proc R Soc Med 1968: 61: 776-777.
4. Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005: 45(7): 892-901.
5. Hall GW, Dale P, Dodge JA. Shwachman-Diamond syndrome: UK perspective. Arch Dis Child 2006: 91(6): 521-524.
6. Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie PR. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996: 111(6): 1593-1602.
7. Ginzberg H, Shin J, Ellis L et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999: 135(1): 81-88.
8. Dror Y, Ginzberg H, Dalal I et al. Immune function in patients with Shwachman-Diamond syndrome. Br J Haematol 2001: 114(3): 712-717.
9. Dror Y, Durie P, Ginzberg H et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol 2002: 30(7): 659-669.
10. Dror Y, Durie P, Marcon P, Freedman MH. Duplication of distal thumb phalanx in Shwachman-Diamond syndrome. Am J Med Genet 1998: 78(1): 67-69.
11. Boocock GR, Morrison JA, Popovic M et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003: 33(1): 97-101.
12. Teo JT, Klaassen R, Fernandez CV et al. Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. Pediatrics 2008: 122(1): 139-148.
13. Dror Y. Inherited bone marrow failure syndromes, 3rd edn. Oxford: Blackwell Publishing, 2006.
14. Dallman PR, Siimes MA. Percentile curves for hemoglobin and red cell volume in infancy and childhood. J Pediatr 1979: 94(1): 26-31.
15. Incidence of aplastic anemia: the relevance of diagnostic criteria. By the International Agranulocytosis and Aplastic Anemia Study. Blood 1987: 70(6): 1718-1721.
16. Hasle H, Niemeyer CM, Chessells JM, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia 2003: 17: 277-282.
17. Mandel K, Dror Y, Poon A, Freedman MH. A practical comprehensive classification for pediatric myelodysplastic syndromes: the CCC system. J Pediatr Hematol Oncol 2002: 24: 596-605.
18. Steele JM, Sung L, Klaassen R et al. Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report. Pediatr Blood Cancer 2006: 47(7):918-925.
19. Cipolli M, D'Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G. Shwachman's syndrome: pathomorphosis and long-term outcome. J Pediatr Gastroenterol Nutr 1999: 29(3): 265-272.
20. Majeed F, Jadko S, Freedman MH, Dror Y. Mutation analysis of SBDS in paediatric acute myeloblastic leukemia with and without chromosome 7 abnormalities. Pediatr Blood Cancer 2005: 45(7): 920-924.