Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12 - PubMed

Case Reports

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12

Robert Smigiel et al. Eur J Med Genet. 2014 Jan.

Abstract

Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor. We described a patient with a 1.4 Mb duplication at 17q12 detected by SNP-array study and validated using qRT-PCR, who presented with an oesophageal atresia accompanied with tracheoesophageal fistula and anal atresia as well as other symptoms resembling VATER association (thumb hypoplasia, sacral bone defect, cryptorchidism). Genomic rearrangements of chromosome 17q12 are associated with a variety of clinical phenotypes. Only few cases with OA patients with the duplication in 17q12 have been reported. The 17q12 region comprised 15 genes. We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association.

Keywords: 17q12 microduplication; Anal atresia; Oesophageal atresia with tracheoesophageal fistula; SNP array; VATER association.

Similar articles

• An overview of isolated and syndromic oesophageal atresia.

  Geneviève D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S. Geneviève D, et al. Clin Genet. 2007 May;71(5):392-9. doi: 10.1111/j.1399-0004.2007.00798.x. Clin Genet. 2007. PMID: 17489843 Review.

• Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula.

  Felix JF, Tibboel D, de Klein A. Felix JF, et al. Eur J Med Genet. 2007 May-Jun;50(3):163-75. doi: 10.1016/j.ejmg.2006.12.004. Epub 2007 Jan 21. Eur J Med Genet. 2007. PMID: 17336605 Review.

• ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.

  Puvabanditsin S, Garrow E, February M, Yen E, Mehta R. Puvabanditsin S, et al. Genet Couns. 2015;26(3):313-20. Genet Couns. 2015. PMID: 26625662

• A case of VATER association mimicking spondylarthropathy.

  Erkan D, Lam LA, Yazici Y, Magid SK. Erkan D, et al. Clin Exp Rheumatol. 2000 Sep-Oct;18(5):651. Clin Exp Rheumatol. 2000. PMID: 11072616 No abstract available.

• Microdeletion 22q11 and oesophageal atresia.

  Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B. Digilio MC, et al. J Med Genet. 1999 Feb;36(2):137-9. J Med Genet. 1999. PMID: 10051013 Free PMC article.

Cited by

• Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.

  Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 Free PMC article.

• A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.

  Li Y, Liu P, Wang W, Jia H, Bai Y, Yuan Z, Yang Z. Li Y, et al. Pediatr Res. 2024 Apr;95(5):1246-1253. doi: 10.1038/s41390-023-02928-0. Epub 2023 Dec 22. Pediatr Res. 2024. PMID: 38135728 Review.

• Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

  Moreno OM, Sánchez AI, Herreño A, Giraldo G, Suárez F, Prieto JC, Clavijo AS, Olaya M, Vargas Y, Benítez J, Surallés J, Rojas A. Moreno OM, et al. Mol Syndromol. 2020 Dec;11(5-6):271-283. doi: 10.1159/000510910. Epub 2020 Nov 11. Mol Syndromol. 2020. PMID: 33505230 Free PMC article.

• Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome.

  Cai M, Lin M, Guo N, Fu M, Xu L, Lin N, Huang H. Cai M, et al. Front Pediatr. 2022 Aug 10;10:910497. doi: 10.3389/fped.2022.910497. eCollection 2022. Front Pediatr. 2022. PMID: 36034547 Free PMC article.

• Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.

  Shi Y, Zheng FX, Wang J, Zhou Q, Chen YP, Zhang B. Shi Y, et al. Mol Cytogenet. 2024 Apr 22;17(1):10. doi: 10.1186/s13039-024-00674-4. Mol Cytogenet. 2024. PMID: 38644482 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • ClinicalKey
  • Elsevier Science

• Other Literature Sources

  • scite Smart Citations

• Miscellaneous

  • NCI CPTAC Assay Portal