Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
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.
Taneichi
Hiromichi
H
Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.
Kanegane
Hirokazu
H
Futatani
Takeshi
T
Otsubo
Keisuke
K
Nomura
Keiko
K
Sato
Yuya
Y
Hama
Asahito
A
Kojima
Seiji
S
Kohdera
Urara
U
Nakano
Takahide
T
Hori
Hiroki
H
Kawashima
Hisashi
H
Inoh
Yoko
Y
Kamizono
Junji
J
Adachi
Naoto
N
Osugi
Yuko
Y
Mizuno
Haruo
H
Hotta
Noriko
N
Yoneyama
Hiroshi
H
Nakashima
Eiji
E
Ikegawa
Shiro
S
Miyawaki
Toshio
T
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001855:Bone Marrow Diseases / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D011506:Proteins; C470521:SBDS protein, human