Abstract |
Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage.
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Authors | Hans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, Tuula Rinne, Bob Glaudemans, Ellen van Beusekom, Paul Rieu, Ruth A Newbury-Ecob, Chin Chiang, Han G Brunner |
Journal | Nature genetics
(Nat Genet)
Vol. 37
Issue 5
Pg. 465-7
(May 2005)
ISSN: 1061-4036 [Print] United States |
PMID | 15821734
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- MYCN protein, human
- N-Myc Proto-Oncogene Protein
- Nuclear Proteins
- Oncogene Proteins
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Topics |
- Brain
(abnormalities)
- DNA Mutational Analysis
- Female
- Gene Dosage
- Heterozygote
- Humans
- Intestinal Atresia
(genetics)
- Male
- Mutation
- N-Myc Proto-Oncogene Protein
- Nuclear Proteins
(genetics, metabolism)
- Oncogene Proteins
(genetics, metabolism)
- Pedigree
- Sequence Analysis, DNA
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