Background: Congenital pouch colon (CPC), a high type of anorectal malformation, is a sporadic disease and several environmental factors are known to be involved in its pathology. 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 reported the familial incidences of CPC and also tried to elucidate the role of genetics in this pathology. Methods: We have reported 1 familial pedigree of CPC and 2 incidences of dizygotic 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 segment duplication and deletion of the twin patients vis-à-vis their parents and unaffected siblings in these DZ twins. Results: A total of 21 copy number variations (CNVs) were reported 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. Genetic 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.
Background:
Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence
of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in
north Indian tertiary care centers.
Objective:
n this article, we deliberate on the possible causes associated with CPC bringing the
manifestation of the disease. In addition, we throw insights on the effective role of this congenital
anomaly in Colon and provide systems genomic evaluation by comparing our recent analysis to
that of Colon and Ileum based on Next-Generation Sequencing (NGS) studies.
Conclusions:
In this commentary article, we argue that a host of epigenetic factors could be the reason
why the disease is manifested in colon alone. We further hypothesize on the few unmet challenges
linking epigenetics to understand the genetic variants.
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