Ann Lab Med.  2015 Mar;35(2):269-271. 10.3343/alm.2015.35.2.269.

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

• Cho WK
• Jung IA
• Kim J
• Chae H
• Kim M
• Chung NG
• Suh BK

• KMID: 2363194
• DOI: http://doi.org/10.3343/alm.2015.35.2.269

Abstract

No abstract available.

MeSH Terms

Adolescent
Base Sequence
Bone Marrow Diseases/*diagnosis/diagnostic imaging/genetics
DNA Mutational Analysis
Exocrine Pancreatic Insufficiency/*diagnosis/diagnostic imaging/genetics
Humans
Lipomatosis/*diagnosis/diagnostic imaging/genetics
Magnetic Resonance Imaging
Male
Mutation
Proteins/genetics
Tomography, X-Ray Computed
Proteins

Figure

• 

  Fig. 1 The chromatograms of SBDS mutations in the present SDS cases. (A) Case 1: Sequencing chromatograms of subcloned PCR products demonstrate the compound heterozygosity of c.258+2T>C (A1) and c.183_184TA>CT (A2) mutations. (B) Case 2: Direct sequencing shows a homozygous mutation, c.258+2T>C, in intron 2.

Reference

1. Minelli A, Maserati E, Nicolis E, Zecca M, Sainati L, Longoni D, et al. 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. 2009; 23:708–711. PMID: 19148133.

2. Park SY, Chae MB, Kwack YG, Lee MH, Kim I, Kim YS, et al. Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report. Korean J Intern Med. 2002; 17:204–206. PMID: 12298432.

3. Kwak JW, Kim S, Lim YT. A case of Shwachman-Diamond syndrome. Korean J Pediatr. 2004; 47:900–903.

4. Lee JH, Bae SH, Yu JJ, Lee R, Yun YM, Song EY. A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child. J Korean Med Sci. 2008; 23:142–145. PMID: 18303216.

5. Nicolis E, Bonizzato A, Assael BM, Cipolli M. Identification of novel mutations in patients with Shwachman-Diamond syndrome. Hum Mutat. 2005; 25:410. PMID: 15776428.

6. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003; 33:97–101. PMID: 12496757.

7. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000; 15:7–12. PMID: 10612815.

8. Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, et al. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone. 2007; 41:965–972. PMID: 17920346.

9. Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011; 1242:40–55. PMID: 22191555.

10. Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, et al. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet. 2011; 79:448–458. PMID: 20569259.