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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

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.
AuthorsHans 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
JournalNature genetics (Nat Genet) Vol. 37 Issue 5 Pg. 465-7 (May 2005) ISSN: 1061-4036 [Print] United States
PMID15821734 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins
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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