title: 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.affiliation: Unité INSERM U-781, Université Paris Descartes, Paris, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Cognet
authors.forename: Agnés
authors.initials: A
authors.lastname: Nougayrede
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: Celia
authors.initials: C
authors.lastname: Cretolle
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: David
authors.initials: D
authors.lastname: Genevieve
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Delphine
authors.initials: D
authors.lastname: Heron
authors.forename: Sandra
authors.initials: S
authors.lastname: Mercier
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Sabine
authors.initials: S
authors.lastname: Sarnacki
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Heather
authors.initials: H
authors.lastname: Etchevers
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Loïc
authors.initials: L
authors.lastname: de Pontual
mesh_terms: D000818:Animals; D002675:Child, Preschool; D004380:Duodenal Obstruction / Q000235:genetics; D004933:Esophageal Atresia / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D017880:Limb Deformities, Congenital / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D015513:Oncogene Proteins / Q000737:chemistry / Q000235:genetics*; D014138:Tracheoesophageal Fistula
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins