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

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.

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