Hirschsprung disease, associated syndromes and genetics: a review

被引：633

作者：

Amiel, J. ^{[1
]}

Sproat-Emison, E. ^{[2
]}

Garcia-Barcelo, M. ^{[3
]}

Lantieri, F. ^{[4
,5
]}

Burzynski, G. ^{[6
]}

Borrego, S. ^{[7
,8
]}

Pelet, A. ^{[1
]}

Arnold, S. ^{[2
]}

Miao, X. ^{[3
]}

Griseri, P. ^{[4
]}

Brooks, A. S. ^{[6
,9
]}

Antinolo, G. ^{[7
,8
]}

de Pontual, L. ^{[1
]}

Clement-Ziza, M. ^{[1
]}

Munnich, A. ^{[1
]}

Kashuk, C. ^{[2
]}

West, K. ^{[2
]}

Wong, K. K-Y

Lyonnet, S. ^{[1
]}

Chakravarti, A. ^{[2
]}

Tam, P. K-H ^{[3
]}

Ceccherini, I. ^{[4
]}

Hofstra, R. M. W. ^{[6
]}

Fernandez, R. ^{[7
,8
]}

机构：

[1] Univ Paris 05, INSERM, U 781, Hop Necker Enfants Malad,Fac Med,AP HP, 149 Rue Sevres, F-75743 Paris 15, France

[2] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[3] Univ Hong Kong, Li Ka Shing Fac Med, Div Paediat Surg, Dept Surg, Hong Kong, Hong Kong, Peoples R China

[4] Ist Giannina Gaslini, Genet Mol Lab, I-16148 Genoa, Italy

[5] Univ Genoa, Dipartimento Sci Salute, Sez Biostat, Genoa, Italy

[6] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[7] Univ Seville, Hosp Univ Virgen Rocio, Unidad Clin Genet & Reprod, Seville, Spain

[8] CIBERER, Seville, Spain

[9] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 01期

关键词：

D O I：

10.1136/jmg.2007.053959

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hirschsprung disease ( HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.

引用

页码：1 / 14

页数：14

共 262 条

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