TY - JOUR
T1 - Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan
AU - Taneichi, Hiromichi
AU - Kanegane, Hirokazu
AU - Futatani, Takeshi
AU - Otsubo, Keisuke
AU - Nomura, Keiko
AU - Sato, Yuya
AU - Hama, Asahito
AU - Kojima, Seiji
AU - Kohdera, Urara
AU - Nakano, Takahide
AU - Hori, Hiroki
AU - Kawashima, Hisashi
AU - Inoh, Yoko
AU - Kamizono, Junji
AU - Adachi, Naoto
AU - Osugi, Yuko
AU - Mizuno, Haruo
AU - Hotta, Noriko
AU - Yoneyama, Hiroshi
AU - Nakashima, Eiji
AU - Ikegawa, Shiro
AU - Miyawaki, Toshio
N1 - Funding Information:
This work was supported by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science, and Technology of Japan and the Ministry of Health, Labor, and Welfare of Japan.
PY - 2006/7
Y1 - 2006/7
N2 - 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.
AB - 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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U2 - 10.1532/IJH97.06043
DO - 10.1532/IJH97.06043
M3 - Article
C2 - 16867904
AN - SCOPUS:33748664608
SN - 0925-5710
VL - 84
SP - 60
EP - 62
JO - International Journal of Hematology
JF - International Journal of Hematology
IS - 1
ER -