MYCN haploinsufficiency is associated with reduced brain size
and intestinal atresias in Feingold syndrome by van Bokhoven
Hans, Celli Jacopo, van Reeuwijk Jeroen, Rinne Tuula, Glaudemans
Bob, van Beusekom Ellen, Rieu Paul, Newbury-Ecob Ruth A, Chiang
Chin, Brunner Han G in Nature genetics (2005). PubMed   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.  [ hide abstract ]
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