Deciphering the Mutation Spectrum in South Indian Children With Congenital Anomalies of the Kidney and Urinary Tract
- Can NGS based customized targeted gene panel be used for genetic diagnosis of CAKUT.
- What is estimated ‘monogenic burden’ in south Indian children with CAKUT.
- Cohort of the size 110 patients and 69 of these patients were genotyped
| Phenotype | % representation |
|---|---|
| Posterior Urethral Valve (PUV) | 39.1 % |
| Vesico-Ureteric Reflux (VUR) | 33.3 % |
| Multi-Cystic Dysplastic Kidney (MCDK) | 7.2 % |
Total Number of Patients Screened: 110
Total Number of Patients Samples sequenced: 69
- Patients and Clinical data:
Children diagnosed with CAKUT (age group: newborn -18 years). Clinical data, laboratory and imaging details were documented
- Next generation sequencing:
Customized CAKUT NGS panel sequencing using Ion Torrent Personal Genome Machine sequencer
- NGS data analysis:
Variants were filtered and classified according to the workflow
| Name | Link |
|---|---|
| OMIM | http://omim.org/ |
| PubMed | http://www.ncbi.nlm.nih.gov/pubmed/ |
| gnomAD | https://gnomad.broadinstitute.org/ |
| 5000 Exome | http://evs.gs.washington.edu/EVS/ |
| SIFT | https://sift.bii.a-star.edu.sg/ |
| PolyPhen | http://genetics.bwh.harvard.edu/pph2/ |
| Mutation taster | http://www.mutationtaster.org/ |
| Outcome | Link |
|---|---|
| Detailed clinical profile of the patients included in the study | Clinical Profile |
| Summary of NGS data output | NGS output |
| Details of Variants identified in the cohort | Variants detected |
| Pathogenicity risk score calculation | Risk calculation |
Dr. Anil Vasudevan: anil.vasudevan@sjri.res.in