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

• Brief Communication
• Published: April 2001
• Yasukazu Yamada1,
• Kenichiro Yamada1,
• Takao Ono1,
• Noriko Nomura1,
• Hiroko Taniguchi1,
• Hiroshi Kitoh1,
• Norihiro Mutoh1,
• Tsutomu Yamanaka3,
• Kyosuke Mushiake5,
• Kanefusa Kato2,
• Shin-ichi Sonta1 &
• …
• Masahiro Nagaya4

Nature Genetics volume 27, pages 369–370 (2001)Cite this article

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Abstract

Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features1,2,3, 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.

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Acknowledgements

We thank the families and patients for participation; S. Tsuji for critical reading of this manuscript and discussions; and K. Miura and S. Miyazaki for help with clinical studies. This work was supported by grants from Ministry of Education, Science, Sports and Culture of Japan (to N.W. and K.K.) and Tsubaki Memorial Neuroscience Research Foundation (to N.W.).

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Authors and Affiliations

1. Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
   Nobuaki Wakamatsu, Yasukazu Yamada, Kenichiro Yamada, Takao Ono, Noriko Nomura, Hiroko Taniguchi, Hiroshi Kitoh, Norihiro Mutoh & Shin-ichi Sonta
2. Department of Biochemistry, Institute for Developmental Research, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
   Kanefusa Kato
3. Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
   Tsutomu Yamanaka
4. Department of Pediatric Surgery, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
   Masahiro Nagaya
5. Department of Pediatrics, Toki General Hospital, Toki, Gifu, Japan
   Kyosuke Mushiake

Authors

1. Nobuaki Wakamatsu
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2. Yasukazu Yamada
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3. Kenichiro Yamada
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4. Takao Ono
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5. Noriko Nomura
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6. Hiroko Taniguchi
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7. Hiroshi Kitoh
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8. Norihiro Mutoh
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9. Tsutomu Yamanaka
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10. Kyosuke Mushiake
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11. Kanefusa Kato
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12. Shin-ichi Sonta
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13. Masahiro Nagaya
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Corresponding author

Correspondence toNobuaki Wakamatsu.

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Wakamatsu, N., Yamada, Y., Yamada, K. et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.Nat Genet 27, 369–370 (2001). https://doi.org/10.1038/86860

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• Received: 09 January 2001
• Accepted: 02 March 2001
• Issue Date: April 2001
• DOI: https://doi.org/10.1038/86860

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