title: Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Taneichi
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Takeshi
authors.initials: T
authors.lastname: Futatani
authors.forename: Keisuke
authors.initials: K
authors.lastname: Otsubo
authors.forename: Keiko
authors.initials: K
authors.lastname: Nomura
authors.forename: Yuya
authors.initials: Y
authors.lastname: Sato
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Urara
authors.initials: U
authors.lastname: Kohdera
authors.forename: Takahide
authors.initials: T
authors.lastname: Nakano
authors.forename: Hiroki
authors.initials: H
authors.lastname: Hori
authors.forename: Hisashi
authors.initials: H
authors.lastname: Kawashima
authors.forename: Yoko
authors.initials: Y
authors.lastname: Inoh
authors.forename: Junji
authors.initials: J
authors.lastname: Kamizono
authors.forename: Naoto
authors.initials: N
authors.lastname: Adachi
authors.forename: Yuko
authors.initials: Y
authors.lastname: Osugi
authors.forename: Haruo
authors.initials: H
authors.lastname: Mizuno
authors.forename: Noriko
authors.initials: N
authors.lastname: Hotta
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yoneyama
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakashima
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: 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
chemical_list: D011506:Proteins; C470521:SBDS protein, human