Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features, but the gene mutated in this condition has not yet been identified. Here we report that mutations in SIP1, encoding Smad interacting protein-1, cause disease in a series of cases. SIP1 is located in the deleted segment at 2q22 from a patient with a de novo t(2;13)(q22;q22) translocation. SIP1 seems to have crucial roles in normal embryonic neural and neural crest development.
Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan. nwaka@inst-hsc.pref.aichi.jp
N
N
Wakamatsu
Y
Y
Yamada
K
K
Yamada
T
T
Ono
N
N
Nomura
H
H
Taniguchi
H
H
Kitoh
N
N
Mutoh
T
T
Yamanaka
K
K
Mushiake
K
K
Kato
S
S
Sonta
M
M
Nagaya
D000818:Animals; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000074165:Zinc Finger E-box Binding Homeobox 2
D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; C120602:ZEB2 protein, mouse; D000074165:Zinc Finger E-box Binding Homeobox 2