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

Journal: Nature Genetics
Published:
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
Hans Van Bokhoven, Jacopo Celli, Jeroen Van Reeuwijk, Tuula Rinne, Bob Glaudemans, Ellen Van Beusekom, Paul Rieu, Ruth Newbury Ecob, Chin Chiang, Han Brunner