MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
H van Bokhoven, J Celli, J van Reeuwijk, T Rinne… - Nature …, 2005 - nature.com
H van Bokhoven, J Celli, J van Reeuwijk, T Rinne, B Glaudemans, E van Beusekom, P Rieu…
Nature genetics, 2005•nature.comFeingold 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.
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.
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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