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Original Articles

Clinical and genetic approach in the characterization of newborns with anorectal malformation

ORCID Icon, , , , , , & show all
Pages 4513-4520 | Received 24 May 2020, Accepted 18 Nov 2020, Published online: 01 Dec 2020

References

  • EUROCAT Prevalence Tables; 2020; [cited 2020 May 15]. Available from: http://www.eurocat-network.eu/accessprevalencedata/prevalencetables
  • Matsumaru D, Murashima A, Fukushima J, et al. Systematic stereoscopic analyses for cloacal development: the origin of anorectal malformations. Sci Rep. 2015;5:13943.
  • Wijers CH, van Rooij IA, Marcelis CL, et al. Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review. Birth Defects Res C Embryo Today. 2014;102(4):382–400.
  • Vermes G, László D, Mátrai Á, et al. Maternal factors in the origin of isolated anorectal malformations – a population-based case-control study. J Matern Fetal Neonatal Med. 2016;29(14):2316–2321.
  • Howley MM, Fisher SC, Van Zutphen AR, et al. Thyroid medication use and birth defects in the national birth defects prevention study. Birth Defects Res. 2017;109(18):1471–1481.
  • van de Putte R, Wijers CH, de Blaauw I, et al. Previous miscarriages and GLI2 are associated with anorectal malformations in offspring. Hum Reprod. 2017;32(2):299–306.
  • Wang Z, Wang Q, Gu C, et al. Abnormal serum vitamin A levels and retinoic acid receptor α expression patterns in children with anorectal malformation. Pediatr Surg Int. 2019;35(8):903–910.
  • Donovan KA, An J, Nowak RP, et al. Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. Elife. 2018;7:e38430.
  • van de Putte R, van Rooij IALM, Marcelis CLM, et al. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res. 2020;87(3):541–549.
  • Kubiak R, Upadhyay V. Isolated imperforate anus in monozygotic twins: case report and implications. J Pediatr Surg. 2005;40(3):E1–E4.
  • Schramm C, Draaken M, Tewes G, et al. Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. Eur J Pediatr. 2011;170(6):741–746.
  • Holschneider A, Hutson J, Pena A, et al. Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations. J Pediatr Surg. 2005;40(10):1521–1526.
  • Su P, Yuan Y, Huang Y, et al. Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. Int J Colorectal Dis. 2013;28(12):1621–1627.
  • Khanna K, Sharma S, Pabalan N, et al. A review of genetic factors contributing to the etiopathogenesis of anorectal malformations. Pediatr Surg Int. 2018;34(1):9–20.
  • Vlangos CN, Siuniak A, Ackley T, et al. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. Am J Med Genet A. 2011;155A(1):38–49.
  • Zweier C, Sticht H, Aydin-Yaylagül I, et al. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet. 2007;80(3):510–517.
  • Garcia-Barcelo MM, Chi-Hang Lui V, Miao X, et al. Mutational analysis of SHH and GLI3 in anorectal malformations. Birth Defects Res A Clin Mol Teratol. 2008;82(9):644–648.
  • Wessels MW, Kuchinka B, Heydanus R, et al. Polyalanine expansion in the ZIC3 gene leading to Xlinked heterotaxy with VACTERL association: a new polyalanine disorder? J Med Genet. 2010;47(5):351–355.
  • Draaken M, Prins W, Zeidler C, et al. Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene. Int J Mol Med. 2012;30(6):1459–1464.
  • Carter TC, Kay DM, Browne ML, et al. Anorectal atresia and variants at predicted regulatory sites in candidate genes. Ann Hum Genet. 2013;77(1):31–46.
  • Wong EHM, Ng C-L, Lui VC-H, et al. Gene network analysis of candidate loci for human anorectal malformations. PLoS One. 2013;8(8):e69142.
  • Winberg J, Gustavsson P, Papadogiannakis N, et al. Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. PLoS One. 2014;9(1):e85313.
  • Porsch RM, Merello E, De Marco P, et al. Sacral agenesis: a pilot whole exome sequencing and copy number study. BMC Med Genet. 2016;17(1):98.
  • Gao H, Wang D, Bai Y, et al. Hedgehog gene polymorphisms are associated with the risk of Hirschsprung's disease and anorectal malformation in a Chinese population. Mol Med Rep. 2016;13(6):4759–4766.
  • Solomon BD, Baker LA, Bear KA, et al. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 2014;164(3):451–457.e1.
  • Schramm C, Draaken M, Bartels E, et al. De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A. 2011;155A(2):445–449.
  • Bartels E, Draaken M, Kazmierczak B, et al. De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. Cytogenet Genome Res. 2011;134(3):243–248.
  • Marcelis C, de Blaauw I, Brunner H. Chromosomal anomalies in the etiology of anorectal malformations: a review. Am J Med Genet A. 2011;155A(11):2692–2704.
  • Dworschak GC, Draaken M, Marcelis C, et al. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. Am J Med Genet A. 2013;161A(12):3035–3041.
  • Hilger A, Schramm C, Pennimpede T, et al. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet. 2013;21(12):1377–1382.
  • Wong EH, Cui L, Ng CL, et al. Genome-wide copy number variation study in anorectal malformations. Hum Mol Genet. 2013;22(3):621–631.
  • Dworschak GC, Draaken M, Hilger AC, et al. Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Res A Clin Mol Teratol. 2015;103(4):235–242.
  • Zhang R, Marsch F, Kause F, et al. Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Res. 2017;109(13):1063–1069.
  • Mathur P, Nunia V, Sharma R, et al. Congenital pouch colon: role of genetics or environmental influence? Pathobiology. 2018;85(5–6):332–341.
  • van de Putte R, Wijers CHW, Reutter H, et al. Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. PLoS One. 2019;14(5):e0217477.
  • Winberg J, Gustavsson P, Sahlin E, et al. Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations. Mol Genet Genomic Med. 2020;8(2):e1084.
  • Lap CC, Voskuilen CS, Pistorius LR, et al. Reference curves for the normal fetal small bowel and colon diameters; their usefulness in fetuses with suspected dilated bowel. J Matern Fetal Neonatal Med. 2020;33(4):633–638.
  • Acevedo-Gallegos S. Association between selected structural defects and chromosomal abnormalities. Rev Invest Clin. 2013;65:248–254.
  • Schierz IA, Pinello G, Giuffrè M, et al. Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: a retrospective study. Early Hum Dev. 2016;103:43–47.
  • Campaña H, Rittler M, Poletta FA, et al. Minor anomalies: can they predict specific major defects? A study based on 23 major and 14 minor anomalies in over 25,000 newborns with birth defects. Am J Perinatol. 2014;31(6):447–454.
  • Rankin J, Allwood A, Canham N, et al. Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion. Clin Dysmorphol. 2009;18:222–224.
  • El-Hattab AW, Skorupski JC, Hsieh MH, et al. OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010;152A(2):504–511.
  • Li Z, Chen J, Xu Y, et al. Genome-wide analysis of the role of copy number variation in schizophrenia risk in Chinese. Biol Psychiatry. 2016;80(4):331–337.
  • Heilstedt HA, Shapira SK, Gregg AR, et al. Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis. Clin Genet. 1999;56(2):123–128.
  • Wessels MW, De Graaf BM, Cohen-Overbeek TE, et al. A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet. 2008;122(6):595–603.
  • Swinkels ME, Simons A, Smeets DF, et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype. Am J Med Genet A. 2008;146A(11):1430–1438.
  • Chacon-Camacho OF, Zenker M, Schanze D, et al. Novel FREM1 mutations in a patient with MOTA syndrome: clinical findings, mutation update and review of FREM1-related disorders literature. Eur J Med Genet. 2017;60(3):190–194.
  • Herweijer TJ, Oorthuys JW, Leschot NJ. De novo partial trisomy 15q (proximal type). J Med Genet. 1988;25(4):260–262.
  • Zarate YA, Farrell JM, Alfaro MP, et al. STAR syndrome is part of the differential diagnosis of females with anorectal malformations. Am J Med Genet A. 2015;167A(8):1940–1943.
  • Zen PRG, Riegel M, Rosa RFM, et al. Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Eur J Med Genet. 2010;53(5):333–336.

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