Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum
Sujay Jaju, Jayashree Sivagnanam, Parvathy Menon, Elakkiya Nandini G R, Padmapriya Shanmugam, Anju Jose, Rodney Morris, Kim Ramasamy, Narendran Venkatapathy, Jaishree Pandian, Siddharth Narendran · 2026
Read Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum by Sujay Jaju, Jayashree Sivagnanam, Parvathy Menon, Elakkiya Nandini G R, Padmapriya Shanmugam, Anju Jose, Rodney Morris, Kim Ramasamy, Narendran Venkatapathy, Jaishree Pandian, Siddharth Narendran (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13545373.txt.
Description
Sujay Jaju and colleagues reported in 2026 on whole-exome sequencing for 113 people with retinitis pigmentosa seen through an eye disease registry in South India. Retinitis pigmentosa slowly destroys the retina, and many families in this region have parents who are related, which raises the share of recessive disease. The team sequenced the protein-coding genome and judged each variant by standard clinical rules.
Among 109 unrelated patients, testing found 186 rare variants across 92 retinal genes and settled a molecular diagnosis for about 46 percent. Recessive inheritance dominated, and even patients without related parents often carried two identical copies of a variant. Three genes, EYS, USH2A, and ADGRV1, appeared most often, giving counselors a region-specific picture to work from.
Catalog record
| CREATOR | Sujay Jaju, Jayashree Sivagnanam, Parvathy Menon, Elakkiya Nandini G R, Padmapriya Shanmugam, Anju Jose, Rodney Morris, Kim Ramasamy, Narendran Venkatapathy, Jaishree Pandian, Siddharth Narendran |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 44 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |