Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and...
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| Published in | American journal of human genetics Vol. 74; no. 5; pp. 1043 - 1050 |
|---|---|
| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.05.2004
University of Chicago Press The American Society of Human Genetics |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1086/386293 |
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| Abstract | Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator
AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in
AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility. |
|---|---|
| AbstractList | Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator
AXIN2.
In addition, we identified a de novo frameshift mutation 1994-1995insG in
AXIN2
in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility. Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility. Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility.Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility. Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility. |
| Author | Thesleff, Irma Somer, Mirja Järvinen, Heikki Lammi, Laura Arte, Sirpa Lahermo, Päivi Pirinen, Sinikka Nieminen, Pekka |
| AuthorAffiliation | Institutes of 1 Dentistry and 2 Biotechnology and 3 Finnish Genome Center, University of Helsinki; Departments of 4 Oral and Maxillofacial Diseases and 5 Surgery, Helsinki University Central Hospital; and 6 Family Federation of Finland, Helsinki |
| AuthorAffiliation_xml | – name: Institutes of 1 Dentistry and 2 Biotechnology and 3 Finnish Genome Center, University of Helsinki; Departments of 4 Oral and Maxillofacial Diseases and 5 Surgery, Helsinki University Central Hospital; and 6 Family Federation of Finland, Helsinki |
| Author_xml | – sequence: 1 givenname: Laura surname: Lammi fullname: Lammi, Laura organization: Institute of Dentistry, University of Helsinki, Helsinki – sequence: 2 givenname: Sirpa surname: Arte fullname: Arte, Sirpa organization: Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki – sequence: 3 givenname: Mirja surname: Somer fullname: Somer, Mirja organization: Family Federation of Finland, Helsinki – sequence: 4 givenname: Heikki surname: Järvinen fullname: Järvinen, Heikki organization: Department of Surgery, Helsinki University Central Hospital, Helsinki – sequence: 5 givenname: Päivi surname: Lahermo fullname: Lahermo, Päivi organization: Finnish Genome Center, University of Helsinki, Helsinki – sequence: 6 givenname: Irma surname: Thesleff fullname: Thesleff, Irma organization: Institute of Biotechnology, University of Helsinki, Helsinki – sequence: 7 givenname: Sinikka surname: Pirinen fullname: Pirinen, Sinikka organization: Institute of Dentistry, University of Helsinki, Helsinki – sequence: 8 givenname: Pekka surname: Nieminen fullname: Nieminen, Pekka email: pekka.nieminen@helsinki.fi organization: Institute of Dentistry, University of Helsinki, Helsinki |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15725967$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/15042511$$D View this record in MEDLINE/PubMed |
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| CODEN | AJHGAG |
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| SubjectTerms | Anodontia - diagnosis Anodontia - genetics Axin Protein Biological and medical sciences Codon, Nonsense - genetics Colorectal Neoplasms - genetics Colorectal Neoplasms - pathology Cytoskeletal Proteins - genetics Female Frameshift Mutation - genetics Gastroenterology. Liver. Pancreas. Abdomen Genetic Predisposition to Disease Humans Lod Score Male Medical sciences Pedigree Signal Transduction - physiology Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors |
| Title | Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer |
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