WCN25-2709 MUTATIONAL SPECTRUM OF CTNS GENE IN INDIAN CHILDREN WITH NEPHROPATHIC CYSTINOSIS

Two hundred thirty-three patients with renal tubular disorders had been registered till June 2024.Most of the patients enrolled in the registry had distal RTA, followed by Bartter and Gitelman syndrome and proximal RTA.Figure 1shows the pie chart of clinical presentation at the time of recruitment.Results of genotype: Genetic testing was available from 158 participants.The mean age of the patients was 8.73 (5.9) years.Of patients with dRTA in whom NGS report is available, the diagnosis 48 patients were confirmed through genetic testing (diagnostic yield: 63%) .Seggregation analysis was done in 51 cases.Table 1shows the details of variant classification as per American college of Medical genetics and Genomics (ACMG) criterion.Pathogenic/ likely pathogenic variants included SLC4A1(23), ATP6VOA4(7), ATP6VIB1 (9), WDR72 ((8) in children with distal renal tubular disorders.The common variants reported in children with proximal tubular disorder were: CTNS (9); OCRL (3); FAH(1); variants reported in Barrter Gitelman syndrome were: CLCNKB (6); SLC12A3(4); KCNJ1(3).Conclusions: The present registry is large-scale study of a Indian tubular disorder cohort to characterise the overall phenotypic and genotypic spectra and assess the association between genotype and phenotype, which enhances the current knowledge about the population genetics of tubular disorders in india I have potential conflict of interest to disclose.The research isfundedby Indian Council of Medical Research( ICMR) task force on rare disease no 33/12/2019-RF/Rare/ BMS I did not use generative AI and AI-assisted technologies in the writing process.