Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Eur J Hum Genet. 2011 May;19(5):602-6. doi: 10.1038/ejhg.2010.225. Epub 2011 Jan 12.


Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development and collected a series of 17 FS and 12 isolated oesophageal atresia (IOA) cases. An MYCN gene deletion/mutation was identified in 47% of FS cases exclusively. We hypothesized that mutations or deletions of highly conserved non-coding elements (HCNEs) at the MYCN locus could lead to its misregulation and thereby to FS and/or IOA. We subsequently sequenced five HCNEs at the MYCN locus and designed a high-density tiling path comparative genomic hybridization array of 3.3 Mb at the MYCN locus. We found no mutations or deletions in this region, supporting the hypothesis of genetic heterogeneity in FS.

MeSH terms

  • Animals
  • Child, Preschool
  • Duodenal Obstruction / genetics
  • Esophageal Atresia / genetics*
  • Eyelids / abnormalities
  • Female
  • Humans
  • Infant
  • Intellectual Disability
  • Limb Deformities, Congenital / genetics
  • Male
  • Microcephaly / genetics
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Oncogene Proteins / chemistry
  • Oncogene Proteins / genetics*
  • Tracheoesophageal Fistula


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

Supplementary concepts

  • Oculodigitoesophagoduodenal syndrome