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

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.