International Journal of Hematology

DOI: 10.1532/IJH97.06043 Pages: 60-62

Clinical and genetic analyses of presumed shwachman-diamond syndrome in Japan

1. University of Toyama, Department of Pediatrics, Faculty of Medicine

2. Dokkyo University School of Medicine, Department of Pediatrics

3. Nagoya University Graduate School of Medicine, Department of Pediatrics

4. Kansai Medical University, Department of Pediatrics

5. Mie University School of Medicine, Department of Pediatrics

6. Tokyo Medical University, Department of Pediatrics

7. Kitakyushu City Yahata Hospital

8. Kumamoto University School of Medicine, Department of Pediatrics

9. Osaka City Central Hospital

10. Nagoya City University Graduate School of Medical Sciences, Department of Pediatrics, Neonatology and Congenital Disorders

11. Yamaguchi University School of Medicine, Department of Pediatrics

12. Tokyo Metropolitan Kiyose Children’s Hospital

13. Institute of Medical Science, University of Tokyo, Laboratory for Bone and Joint Disease, SNP Research Center, RIKEN

Correspondence to:
Toshio Miyawakil
Tel: 81-76-434-7313
Fax: 81-76-434-5029
Email: kanegane@med.u-toyama.ac.jp

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Abstract

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. SBDS was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed.We performed genetic analysis of 13 Japanese patients with presumed SDS and found that 10 of them had SBDS mutations. Most patients had recurrent mutations (181-184TA→CT and 258+2T→C); however, 2 patients had unique mutations (259-1G→A and 428C→G). Although genetic analysis is useful for definitive diagnosis and for genetic counseling of SDS patients and families, SDS appears to be a genetically heterogeneous disorder. In addition, presumed SDS patients without SBDS mutations may be included in other disorders.

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