Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

N Wakamatsu; Y Yamada; K Yamada; T Ono; N Nomura; H Taniguchi; H Kitoh; N Mutoh; T Yamanaka; K Mushiake; K Kato; S Sonta; M Nagaya

doi:10.1038/86860

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Nat Genet. 2001 Apr;27(4):369-70. doi: 10.1038/86860.

Authors

N Wakamatsu¹, Y Yamada, K Yamada, T Ono, N Nomura, H Taniguchi, H Kitoh, N Mutoh, T Yamanaka, K Mushiake, K Kato, S Sonta, M Nagaya

Affiliation

¹ Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan. nwaka@inst-hsc.pref.aichi.jp

PMID: 11279515
DOI: 10.1038/86860

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Animals
Child, Preschool
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 2
Female
Hirschsprung Disease / genetics*
Homeodomain Proteins / genetics*
Humans
Mice
Mice, Knockout
Molecular Sequence Data
Mutation*
Repressor Proteins / genetics*
Translocation, Genetic
Zinc Finger E-box Binding Homeobox 2

Substances

Homeodomain Proteins
Repressor Proteins
ZEB2 protein, human
ZEB2 protein, mouse
Zinc Finger E-box Binding Homeobox 2

Associated data

GENBANK/AB056507
GENBANK/AF033116
GENBANK/AF237679