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Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis

김명신|정낙균|Jiyeon Kim|채효진|서병규|In Ah Jung|조원경
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2015.03|Annals of Laboratory Medicine|제35권 제2호|pp. 269-271

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초록

Dear Editor,Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400) characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and hematologic dysfunction, with up to 30% risk of developing MDS. The SBDS gene (OMIM 607744) maps to chromosome 7q11.21, and 90% of SDS patients possess mutations of this gene [1].

Abstract

Dear Editor,Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400) characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and hematologic dysfunction, with up to 30% risk of developing MDS. The SBDS gene (OMIM 607744) maps to chromosome 7q11.21, and 90% of SDS patients possess mutations of this gene [1].

참고문헌 (10)

  1. Minelli A, "The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome", Leukemia, 23, pp.708~711 (2009)
  2. Park SY, "Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report", Korean J Intern Med, 17, pp.204~206 (2002)
  3. 곽정원, "Shwachman-Diamond 증후군 1례", Korean Journal of Pediatrics, 47(8), pp.900~903 (2004), 대한소아과학회
  4. 이정희, "A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child", Journal of Korean Medical Science, 23(1), pp.142~145 (2008), 대한의학회
  5. Nicolis E, "Identification of novel mutations in patients with Shwachman-Diamond syndrome", Hum Mutat, 25, pp.410~ (2005)
  6. Boocock GR, "Mutations in SBDS are associated with Shwachman-Diamond syndrome", Nat Genet, 33, pp.97~101 (2003)
  7. den Dunnen JT, "Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion", Hum Mutat, 15, pp.7~12 (2000)
  8. Toiviainen-Salo S, "Shwachman-Diamond syndrome is associated with lowturnover osteoporosis", Bone, 41, pp.965~972 (2007)
  9. Dror Y, "Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome", Ann N Y Acad Sci, 1242, pp.40~55 (2011)
  10. Hashmi SK, "Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation", Clin Genet, 79, pp.448~458 (2011)

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