Wcn24-2438 the Genetic Landscape of Alport Syndrome in Indian Patients With Phenotypic Correlation

Alport Syndrome is a rare genetic disorder caused by mutations in Col4-A3/A4/A5 genes. It remains largely underdiagnosed in India, as in other Asian countries when classical clinical (Anterior lenticonus/ sensorineural hearing loss {SNHL}) or renal biopsy findings (lamellation and basket weaving of the glomerular basement membrane {GBM} ) are not found. There is a global consensus that the gold standard in diagnosis is genetic testing with Next generation sequencing. We present data on whole exome sequencing performed on a cohort of Indian patients of suspected Alport syndrome with phenotypic correlation, assessment of genetic modifiers and mimics.