Experimental Hematology
Volume 34, Issue 11 , Pages 1517-1521 , November 2006

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

  • Melinda Erdős

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • Krisztina Alapi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • István Balogh

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • Clinical Biochemistry and Molecular Pathology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • György Oroszlán

      Affiliations

    • Department of Pediatrics, Markusovszky Lajos Hospital, Szombathely, Hungary
    • ,
  • Éva Rákóczi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • János Sümegi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • Division of Hematology and Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
    • ,
  • László Maródi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • Corresponding Author InformationOffprint requests to: László Maródi, M.D., Ph.D., Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Nagyerdei krt. 98., H-4012 Debrecen, Hungary

Received 16 February 2006 ,Revised 13 June 2006 ,Accepted 13 June 2006.

References 

  1. Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr. 1964;53:282–293
  2. Dror Y, Freedman MH. Shwachman-Diamond syndrome. Br J Haematol. 2002;118:701–713
  3. Kuijpers TW, Nannenberg E, Alders M, Bredius R, Hennekam RCM. Congenital aplastic anaemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome. Pediatrics. 2004;114:387–391
  4. Makitie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet. 2004;65:101–112
  5. Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964;65:645–663
  6. Hill RE, Durie PR, Gaskin KJ, Davidson GP, Forstner GG. Steatorrhea and pancreatic insufficiency in Shwachman syndrome. Gastroenterology. 1982;83:22–27
  7. Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie PR. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology. 1986;111:1593–1602
  8. Boocock GRB, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97–101
  9. Kawakami T, Mitsui T, Kanai M, et al. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med. 2005;206:253–259
  10. Nakashima E, Mabuchi A, Makita Y, et al. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet. 2004;114:345–348
  11. Nicolis E, Bonizzato A, Assael BM, Cipolli M. Identification of novel mutations in patients with Shwachman-Diamond syndrome. Hum Mutat. 2005;25:410–415
  12. Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104:3588–3590
  13. Erdős M, Uzvölgyi E, Nemes Z, et al. Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. Hum Mutat. 2005;25:506–512
  14. Morra M, Simarro-Grande M, Martin M, et al. Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. J Biol Chem. 2001;276:36809–36816
  15. Kuijpers TW, Alders M, Tool AT, et al. Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood. 2005;106:356–361
  16. Savchenko A, Krogan N, Cort JR, et al. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005;280:19213–19220
  17. Shammas C, Menne TF, Hilcenko C, et al. Structural analysis of the SBDS protein family: insight into the leukemia-associated Shwachman-Diamond syndrome. J Biol Chem. 2005;280:19221–19229

PII: S0301-472X(06)00397-3

doi: 10.1016/j.exphem.2006.06.009

Experimental Hematology
Volume 34, Issue 11 , Pages 1517-1521 , November 2006

Article Tools

* Image Usage & Resolution