MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

被引：118

作者：

van Bokhoven, H

Celli, J

van Reeuwijk, J

Rinne, T

Glaudemans, B

van Beusekom, E

Rieu, P

Newbury-Ecob, RA

Chiang, C

Brunner, HG

机构：

[1] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[2] Radboud Univ Nijmegen Med Ctr, Dept Pediat Surg, NL-6500 HB Nijmegen, Netherlands

[3] Royal United Hosp, Genet Ctr, Bath BA1 3NG, Avon, England

[4] Vanderbilt Univ, Med Ctr, Dept Cell & Dev Biol, Nashville, TN USA

来源：

NATURE GENETICS | 2005年 / 37卷 / 05期

关键词：

D O I：

10.1038/ng1546

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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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页码：465 / 467

页数：3

相关论文

共 15 条

[1]

Familial syndromic esophageal atresia maps to 2p23-p24 [J].

Celli, J ;

van Beusekom, E ;

Hennekam, RCM ;

Gallardo, ME ;

Smeets, DFCM ;

de Córdoba, SR ;

Innis, JW ;

Frydman, M ;

König, R ;

Kingston, H ;

Tolmie, J ;

Govaerts, LCP ;

van Bokhoven, H ;

Brunner, HG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :436-444

[2]

Feingold syndrome: Clinical review and genetic mapping [J].

Celli, J ;

van Bokhoven, H ;

Brunner, HG .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (04) :294-300

[3]

DISCRIMINATION BETWEEN RELATED DNA SITES BY A SINGLE AMINO-ACID RESIDUE OF MYC-RELATED BASIC HELIX LOOP HELIX PROTEINS [J].

DANG, CV ;

DOLDE, C ;

GILLISON, ML ;

KATO, GJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (02) :599-602

[4]

A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[5]

HIRVONEN H, 1990, ONCOGENE, V5, P1787

[6]

N-myc translation is initiated via an internal ribosome entry segment that displays enhanced activity in neuronal cells [J].

Jopling, CL ;

Willis, AE .

ONCOGENE, 2001, 20 (21) :2664-2670

[7]

Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors [J].

Kenney, AM ;

Cole, MD ;

Rowitch, DH .

DEVELOPMENT, 2003, 130 (01) :15-28

[8]

N-myc is essential during neurogenesis for the rapid expansion of progenitor cell populations and the inhibition of neuronal differentiation [J].

Knoepfler, PS ;

Cheng, PF ;

Eisenman, RN .

GENES & DEVELOPMENT, 2002, 16 (20) :2699-2712

[9]

Sonic hedgehog is essential to foregut development [J].

Litingtung, Y ;

Lei, L ;

Westphal, H ;

Chiang, C .

NATURE GENETICS, 1998, 20 (01) :58-61

[10]

Embryogenesis of tracheo esophageal anomalies: a review [J].

Merei, JM ;

Hutson, JM .

PEDIATRIC SURGERY INTERNATIONAL, 2002, 18 (5-6) :319-326