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

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

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1
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>

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.

PMID:
15821734
DOI:
10.1038/ng1546
[Indexed for MEDLINE]
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