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

被引：24

作者：

Cognet, Marie ^{[1
]}

Nougayrede, Agnes ^{[1
]}

Malan, Valerie ^{[1
]}

Callier, Patrick ^{[2
]}

Cretolle, Celia ^{[3
]}

Faivre, Laurence ^{[2
]}

Genevieve, David ^{[4
]}

Goldenberg, Alice ^{[5
]}

Heron, Delphine ^{[6
]}

Mercier, Sandra ^{[7
]}

Philip, Nicole ^{[8
]}

Sigaudy, Sabine ^{[8
]}

Verloes, Alain ^{[9
]}

Sarnacki, Sabine ^{[3
]}

Munnich, Arnold ^{[1
,10
,11
]}

Vekemans, Michel ^{[1
,10
,11
]}

Lyonnet, Stanislas ^{[1
,10
,11
]}

Etchevers, Heather ^{[1
]}

Amiel, Jeanne ^{[1
,10
,11
]}

de Pontual, Loic ^{[1
,12
]}

机构：

[1] Univ Paris 05, Unite INSERM U781, Paris, France

[2] Hop Enfants, Serv Genet, Dijon, France

[3] Hop Necker Enfants Malad, AP HP, Serv Chirurg Pediat, F-75743 Paris 15, France

[4] Hop Arnaud de Villeneuve, Ctr Reference Anomalies Dev, Dept Med Genet, Montpellier, France

[5] Hop Charles Nicolle, Serv Genet, Rouen, France

[6] Hop La Pitie Salpetriere, Serv Genet, Paris, France

[7] Hop Sud, Serv Genet, Rennes, France

[8] Hop La Timone, Serv Genet, Marseille, France

[9] Hop Robert Debre, Serv Genet, F-75019 Paris, France

[10] Hop Necker Enfants Malad, AP HP, Serv Genet, F-75743 Paris 15, France

[11] Hop Necker Enfants Malad, AP HP, Cytogenet Serv, F-75743 Paris 15, France

[12] Hop Jean Verdier, AP HP, Serv Pediat, Bondy, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 05期

关键词：

Feingold syndrome; MYCN; genetic heterogeneity; N-MYC; EMBRYONIC LETHALITY; DISRUPTION; EXPRESSION; GENE;

D O I：

10.1038/ejhg.2010.225

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. European Journal of Human Genetics (2011) 19, 602-606; doi:10.1038/ejhg.2010.225; published online 12 January 2011

引用

页码：602 / 606

页数：5

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