Original Paper Pathobiology 2018;85:332–341 Congenital Pouch Colon: Role of Genetics or Environmental Influence? Praveen Mathur a Vandana Nunia b Rakesh Sharma c Anita Simlot d Krishna Mohan Medicherla e a Department of Pediatric Surgery, SMS Medical College, Jaipur, India; b Department of Zoology, University of Rajasthan, Jaipur, India; c Bioinformatics Infrastructure Facility, University of Rajasthan, Jaipur, India; d Department of Gynaecology and Obstetrics, SMS Medical College, Jaipur, India; e Department of Biotechnology and Bioinformatics, Birla Institute of Scientific Research, Jaipur, India Received: February 26, 2018 Accepted after revision: July 25, 2018 Published online: September 17, 2018 Dr. Praveen Mathur Department of Pediatric Surgery, SMS Medical College 24, Shyam Kunj, Laxmi Colony, Tonk Road Jaipur 302015 (India) E-Mail azadanitaashu@gmail.com © 2018 S. Karger AG, Basel E-Mail karger@karger.com www.karger.com/pat DOI: 10.1159/000492432 Keywords Congenital pouch colon · Dizygotic twins · Familial pedigree · CD cytoscan array · Copy number variations Abstract Background: Congenital pouch colon (CPC), a high type of anorectal malformation, is a sporadic disease and several en- vironmental factors are known to be involved in its pathol- ogy. To the best of our knowledge, no familial incidence of CPC has been reported anywhere in the literature so far. Aim: In the present study, which is first of its kind, we have report- ed the familial incidences of CPC and also tried to elucidate the role of genetics in this pathology. Methods: We have re- ported 1 familial pedigree of CPC and 2 incidences of dizy- gotic twins (DZ), out of them one is affected and another one is normal. Highly comprehensive microarray CytoScan HD from Affymetrix was employed to understand the defects underlying submicroscopic genomic imbalance like seg- ment duplication and deletion of the twin patients vis-à-vis their parents and unaffected siblings in these DZ twins. Re- sults: A total of 21 copy number variations (CNVs) were re- ported in the patient samples that did not overlap with the CNVs in normal parents and healthy sibling, including 5 loss, 3 LOH and 13 gain with size varied from 95 bp to 77 kbp. Ge- netic analysis revealed involvement of 12 potential genetic loci on Chr 1, 2, 3, 4, 6, 11, and 16. Conclusion: Genetic study found that CPC could be a developmental disorder. These findings are important for further elucidating genetic causes of CPC pathogenesis. © 2018 S. Karger AG, Basel Introduction Congenital pouch colon (CPC) is a rare variant of ano- rectal malformation (ARM). In this deformity, varying lengths of the colon are replaced by a pouch like structure that communicates distally with genitourinary tract. Our histopathological and immuno-histochemical findings suggest that CPC has distinct defects in the neuromuscu- lature [1]. An unusual feature of CPC is the prevalence of this malformation in the Indian subcontinent, the highest incidence in the west and north of the India [2]. It is esti- mated to be in the range of 5–82% of the total number of neonates managed for ARM [3]. CPC more frequently affects the male population and male female (M:F) distri- bution is 4:1 [4]. The exact pathogenesis and embryology