Congenital Pouch Colon: Role of Genetics or Environmental Influence?
| العنوان: | Congenital Pouch Colon: Role of Genetics or Environmental Influence? |
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| المؤلفون: | Rakesh Sharma, Praveen Mathur, Krishna Mohan Medicherla, Anita Simlot, Vandana Nunia |
| المصدر: | Pathobiology. 85:332-341 |
| بيانات النشر: | S. Karger AG, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, DNA Copy Number Variations, Microarray, Colon, Anal Canal, macromolecular substances, Biology, Genetic analysis, Pathology and Forensic Medicine, 03 medical and health sciences, Gene duplication, Genetics, Twins, Dizygotic, medicine, Humans, Copy-number variation, Sibling, Molecular Biology, Incidence (epidemiology), technology, industry, and agriculture, Infant, Cell Biology, General Medicine, medicine.disease, Pedigree, Developmental disorder, 030104 developmental biology, Gene-Environment Interaction, Pouch |
| الوصف: | 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. |
| تدمد: | 1423-0291 1015-2008 |
| DOI: | 10.1159/000492432 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8e3eba14fd711b89c9adaca19a42e80 https://doi.org/10.1159/000492432 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....c8e3eba14fd711b89c9adaca19a42e80 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14230291 10152008 |
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| DOI: | 10.1159/000492432 |