pubmed.ncbi.nlm.nih.gov

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology - PubMed

Review

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

C Shaw-Smith. J Med Genet. 2006 Jul.

Abstract

Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (N-MYC), anophthalmia-oesophageal-genital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). Additional support for genetic factors in this malformation comes from chromosomal studies and mouse models. This paper reviews current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageal fistula syndromes and associations.

PubMed Disclaimer

Conflict of interest statement

Competing interests: none declared

Figures

Similar articles

Cited by

References

    1. Harper P S.Practical genetic counselling. 6th ed. London: Arnold, 2004
    1. Robert E, Mutchinick O, Mastroiacovo P, Knudsen L B, Daltveit A K, Castilla E E, Lancaster P, Kallen B, Cocchi G. An international collaborative study of the epidemiology of esophageal atresia or stenosis. Reprod Toxicol 19937405–421. - PubMed
    1. van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury‐Ecob R A, Chiang C, Brunner H G. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 200537465–467. - PubMed
    1. Vissers L E, van Ravenswaaij C M, Admiraal R, Hurst J A, de Vries B B, Janssen I M, van der Vliet W A, Huys E H, de Jong P J, Hamel B C, Schoenmakers E F, Brunner H G, Veltman J A, van Kessel A G. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 200436955–957. - PubMed
    1. FitzPatrick D R, Magee A, Fiedler Z, Turnpenny P, Schneider A, Messina M, Hever A, Williamson K A, van Heyningen V. Mutations in SOX2 cause Rogers syndrome (anophthalmia, tracheo‐esophageal fistula and genitourinary anomalies). The American Society of Human Genetics Annual Meeting 2004, session 54, 190

Publication types

MeSH terms