title: 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.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands. H.vanBokhoven@antrg.umcn.nl <H.vanBokhoven@antrg.umcn.nl>
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Jacopo
authors.initials: J
authors.lastname: Celli
authors.forename: Jeroen
authors.initials: J
authors.lastname: van Reeuwijk
authors.forename: Tuula
authors.initials: T
authors.lastname: Rinne
authors.forename: Bob
authors.initials: B
authors.lastname: Glaudemans
authors.forename: Ellen
authors.initials: E
authors.lastname: van Beusekom
authors.forename: Paul
authors.initials: P
authors.lastname: Rieu
authors.forename: Ruth A
authors.initials: RA
authors.lastname: Newbury-Ecob
authors.forename: Chin
authors.initials: C
authors.lastname: Chiang
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
mesh_terms: D001921:Brain / Q000002:abnormalities*; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage; D006579:Heterozygote; D006801:Humans; D007409:Intestinal Atresia / Q000235:genetics*; D008297:Male; D009154:Mutation; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D015513:Oncogene Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins