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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 5(19), p. 602-606, 2011

DOI: 10.1038/ejhg.2010.225

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

Journal article published in 2011 by Marie Cognet, Agnés Nougayrede, Valérie Malan, Patrick Callier, Celia Cretolle, Laurence Faivre ORCID, Nicole Philip, Sabine Sigaudy, David Genevieve, Alice Goldenberg, Alain Verloes, Delphine Heron, Sabine Sarnacki, Sandra Mercier, Michel Vekemans and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 misregulation and thereby to FS and/or IOA. We subsequently sequenced five HCNEs at the MYCN locus and designed a high-density tiling path comparative genomic hybridization array of 3.3 Mb at the MYCN locus. We found no mutations or deletions in this region, supporting the hypothesis of genetic heterogeneity in FS.