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

Abstract

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.

• Authors: Marie Cognet, Agnés Nougayrede, Valérie Malan, Patrick Callier, Celia Cretolle, Laurence Faivre, David Genevieve, Alice Goldenberg, Delphine Heron, Sandra Mercier, Nicole Philip, Sabine Sigaudy, Alain Verloes, Sabine Sarnacki, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Heather Etchevers, Jeanne Amiel, Loïc de Pontual
• Journal: European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 19 Issue 5 Pg. 602-6 (May 2011) ISSN: 1476-5438 [Electronic] England
• PMID: 21224895 (Publication Type: Journal Article)

Chemical References

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

Topics

• 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, genetics)
• Oncogene Proteins (chemistry, genetics)
• Tracheoesophageal Fistula