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

Nat Genet. 2005 May;37(5):465-7. doi: 10.1038/ng1546. Epub 2005 Apr 10.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities*
  • DNA Mutational Analysis
  • Female
  • Gene Dosage
  • Heterozygote*
  • Humans
  • Intestinal Atresia / genetics*
  • Male
  • Mutation
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Oncogene Proteins / genetics*
  • Oncogene Proteins / metabolism
  • Pedigree
  • Sequence Analysis, DNA


  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins

Associated data

  • OMIM/164280
  • OMIM/192350