Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan

Hiromichi Taneichi, Hirokazu Kanegane, Takeshi Futatani, Keisuke Otsubo, Keiko Nomura, Yuya Sato, Asahito Hama, Seiji Kojima, Urara Kohdera, Takahide Nakano, Hiroki Hori, Hisashi Kawashima, Yoko Inoh, Junji Kamizono, Naoto Adachi, Yuko Osugi, Haruo Mizuno, Noriko Hotta, Hiroshi Yoneyama, Eiji NakashimaShiro Ikegawa, Toshio Miyawaki

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)60-62
Number of pages3
JournalInternational Journal of Hematology
Issue number1
Publication statusPublished - 07-2006
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Hematology


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