Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

@article{Cognet2011DissectionOT,
  title={Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia},
  author={Marie Cognet and Agn{\'e}s Nougayrede and Val{\'e}rie Malan and Patrick Callier and C{\'e}lia Cr{\'e}tolle and Laurence Faivre and David Genevi{\`e}ve and Alice Goldenberg and D{\'e}lphine Heron and Sandra Mercier and Nicole Philip and Sabine Sigaudy and Alain Verloes and S. Sarnacki and Arnold Munnich and Michel Vekemans and Stanislas Lyonnet and Heather C Etchevers and Jeanne Amiel and Lo{\"i}c de Pontual},
  journal={European Journal of Human Genetics},
  year={2011},
  volume={19},
  pages={602-606}
}
Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development and collected a series of 17 FS and 12 isolated oesophageal atresia (IOA) cases. An MYCN gene deletion/mutation was identified in 47% of FS cases exclusively. We hypothesized that mutations or deletions of highly conserved non-coding elements (HCNEs) at the MYCN locus could lead to its… CONTINUE READING