Chromosome Aberrations and Gene Mutations in Patients With Esophageal Atresia
Damian Bednarczyk
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
Search for more papers by this authorMaria M. Sasiadek
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
Search for more papers by this authorCorresponding Author
Robert Smigiel
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
Address correspondence and reprint requests to Robert Smigiel, MD, PhD, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland (e-mail: [email protected]).Search for more papers by this authorDamian Bednarczyk
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
Search for more papers by this authorMaria M. Sasiadek
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
Search for more papers by this authorCorresponding Author
Robert Smigiel
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
Address correspondence and reprint requests to Robert Smigiel, MD, PhD, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland (e-mail: [email protected]).Search for more papers by this authorSupplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.jpgn.org).
The authors report no conflicts of interest.
ABSTRACT
Esophageal atresia (EA) is one of the most frequent congenital malformations of the gastrointestinal tract. Many genetic alterations in patients with EA have been described in the literature. It is thought that the etiology of EA is heterogeneous. This review of the literature provides detailed information about chromosomal aberrations, gene mutations, and clinical features of neonates with EA, and serves as an excellent source to compare newly diagnosed patients with those described in the literature.
REFERENCES
- 1Pedersen RN, Calzolari E, Husby S, et al. EUROCAT Working GroupOesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions. Arch Dis Child 2012; 97: 227–232.
- 2Smigiel R, Karpiński P, Patkowski D. Isolated and syndromic forms of oesophageal atresia--genetic aspects and counseling. Med Wieku Rozwoj 2009; 13: 11–18.
- 3Vogt EG. Congenital esophageal atresia. Am J Roentgenol 1929; 22: 463–465.
- 4Ladd WE. The surgical treatment of esophageal atresia and tracheoesophageal fistulas. N Engl J Med 1944. 625–637.
- 5Gross RE. Surgery of Infancy and Childhood. Philadelphia: WB Saunders; 1953.
- 6Kluth D. Atlas of esophageal atresia. J Pediatr Surg 1976; 11: 901–919.
- 7Spitz L. Oesophageal atresia. Orphanet J Rare Dis 2007; 11: 2–24.
- 8Smigiel R, Patkowski D, Pyrek B, et al. Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18--comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist. Med Wieku Rozwoj 2011; 15: 7–15.
- 9Boulet AM, Capecchi MR. Targeted disruption of hoxc-4 causes esophageal defects and vertebral transformations. Dev Biol 1996; 177: 232–249.
- 10Mendelsohn C, Lohnes D, Décimo D, et al. Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 1994; 120: 2749–2771.
- 11Luo J, Sucov HM, Bader JA, et al. Compound mutants for retinoic acid receptor (RAR) beta and RAR alpha 1 reveal developmental functions for multiple RAR beta isoforms. Mech Dev 1996; 55: 33–44.
- 12Que J, Okubo T, Goldenring JR, et al. Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. Development 2007; 134: 2521–2531.
- 13Que J, Luo X, Schwartz RJ, et al. Multiple roles for Sox2 in the developing and adult mouse trachea. Development 2009; 136: 1899–1907.
- 14Que J, Choi M, Ziel JW, et al. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation 2006; 74: 422–437.
- 15Mahlapuu M, Enerbäck S, Carlsson P. Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations. Development 2001; 128: 2397–2406.
- 16Minoo P, Su G, Drum H, et al. Defects in tracheoesophageal and lung morphogenesis in Nkx2. 1(−/−) mouse embryos. Dev Biol 1999; 209: 60–71.
- 17Litingtung Y, Lei L, Westphal H, et al. Sonic hedgehog is essential to foregut development. Nat Genet 1998; 20: 58–61.
- 18Motoyama J, Liu J, Mo R, et al. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 1998; 20: 54–57.
- 19Arsić D, Keenan J, Quan QB, et al. Differences in the levels of sonic hedgehog protein during early foregut development caused by exposure to adriamycin give clues to the role of the Shh gene in oesophageal atresia. Pediatr Surg Int 2003; 19: 463–466.
- 20Calonge WM, Martinez L, Lacadena J, et al. Expression of homeotic genes Hoxa3, Hoxb3, Hoxd3 and Hoxc4 is decreased in the lungs but not in the hearts of adriamycin-exposed mice. Pediatr Surg Int 2007; 23: 419–424.
- 21Hajduk P, Murphy P, Puri P. Fgf10 gene expression is delayed in the embryonic lung mesenchyme in the adriamycin mouse model. Pediatr Surg Int 2010; 26: 23–27.
- 22Oddsberg J. Environmental factors in the etiology of esophageal atresia. J Pediatr Gastroenterol Nutr 2011; 52 (suppl 1): S4–S5.
- 23Felix JF, Tibboel D, de Klein A. Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. Eur J Med Genet 2007; 50: 163–175.
- 24Lurie IW. Structural autosomal imbalance and oesophageal defects: addendum to the article by Felix et al. (2007). Eur J Med Genet 2007; 50: 322–325.
- 25Cooper MK, Wassif CA, Krakowiak PA, et al. A defective response to hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 2003; 33: 508–513.
- 26Lam WW, Kirk J, Manning N, et al. Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18. Eur J Med Genet 2006; 49: 195–199.
- 27Marsh AJ, Wellesley D, Burge D, et al. Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. J Med Genet 2000; 37: 701–704.
- 28Stankiewicz P, Sen P, Bhatt SS, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009; 84: 780–791.
- 29Cetinkaya M, Cekmez F, Canpolat FE, et al. Oesophageal atresia in a neonate with a familial translocation t(1;13)(p8;q12). Genet Couns 2012; 23: 73–75.
- 30Masumoto K, Suita S, Taguchi T. Oesophageal atresia with a terminal deletion of chromosome 2q37. 1. Clin Dysmorphol 2006; 15: 213–216.
- 31Celli J, van Beusekom E, Hennekam RC, et al. Familial syndromic esophageal atresia maps to 2p23-p24. Am J Hum Genet 2000; 66: 436–444.
- 32Entezami M, Coumbos A, Runkel S, et al. Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities. Clin Genet 1997; 52: 96–99.
- 33Schroeder HW Jr, Forbes S, Mack L, et al. Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations. Clin Genet 1986; 30: 285–292.
- 34Choong YF, Watts P, Little E, et al. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? J AAPOS 2003; 7: 226–227.
- 35Giorda R, Cerritello A, Bonaglia MC, et al. Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet 2004; 41: e71.
- 36Hengstschläger M, Prusa AR, Repa C, et al. Patient with partial trisomy 9q and learning disability but no pyloric stenosis. Dev Med Child Neurol 2004; 46: 57–59.
- 37Doray B, Becmeur F, Girard-Lemaire F, et al. Esophageal and duodenal atresia in a girl with a 12q24. 3-qter deletion. Clin Genet 2002; 61: 468–471.
- 38Forrester MB, Merz RD. Epidemiology of oesophageal atresia and tracheo-oesophageal fistula in Hawaii, 1986-2000. Public Health 2005; 119: 483–488.
- 39Faguer S, Chassaing N, Bandin F, et al. A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. Eur J Med Genet 2011; 54: e437–e440.
- 40Puusepp H, Zilina O, Teek R, et al. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. Eur J Med Genet 2009; 52: 71–74.
- 41Dallapiccola B, Mingarelli R, Digilio C, et al. Interstitial deletion del(17) (q21. 3q23 or 24.2) syndrome. Clin Genet 1993; 43: 54–55.
- 42Solomon BD, Pineda-Alvarez DE, Hadley DW, et al. De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. Birth Defects Res A Clin Mol Teratol 2011; 91: 862–865.
- 43Källén B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65: 160–166.
10.1002/(SICI)1096-8628(19961016)65:2<160::AID-AJMG16>3.0.CO;2-O CAS PubMed Web of Science® Google Scholar
- 44Digilio MC, Marino B, Bagolan P, et al. Microdeletion 22q11 and oesophageal atresia. J Med Genet 1999; 36: 137–139.
- 45Zizka J, Balícek P, Jüttnerová V, et al. Trisomy X in a neonate with esophageal atresia. Cesk Pediatr 1977; 32: 723–724.
- 46de Jong EM, Felix JF, Deurloo JA, et al. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol 2008; 82: 92–97.
- 47Holden ST, Cox JJ, Kesterton I, et al. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet 2006; 43: 750–754.
- 48Reardon W, Zhou XP, Eng C. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet 2001; 38: 820–823.
- 49Wessels MW, Kuchinka B, Heydanus R, et al. Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? J Med Genet 2010; 47: 351–355.
- 50Brosens E, Eussen H, van Bever Y, et al. VACTERL Association Etiology: the impact of de novo and rare copy number variations. Mol Syndromol 2013; 4: 20–26.