MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
AUTHORS
van Bokhoven
HHans ,
Celli
J Jacopo ,
van Reeuwijk
J Jeroen ,
Rinne
T Tuula ,
Glaudemans
B Bob ,
van Beusekom
E Ellen ,
Rieu
P Paul ,
Newbury-Ecob
RA Ruth A ,
Chiang
C Chin ,
Brunner
HG Han G .
Nature genetics. 2005 5 ; 37(5).
465-7
- PMID: 15821734[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.