An effort to identify genetic determinants in Wilson Disease siblings manifesting striking clinical heterogeneity: An exome profiling study of two Indian families

Wilson Disease (WD) is a rare autosomal recessive disorder of copper metabolism caused due to mutations in the copper transporter ATP7B. There is often a striking variability of clinical manifestations among patients with ATP7B mutations, including in siblings. This phenomenon may be caused by individual differences in copper accumulation in hepatocytes and intolerance to copper toxicity as governed by genetic variations in copper metabolism genes acting as modifier loci to the disease.

Source: Pediatric Neurology - March 7, 2024 Category: Neurology Authors: Arpan Saha, Shrishti Das, Samragni De, Tithi Dutta, Shubhrajit Roy, Atanu Biswas, Mainak Sengupta Tags: Research Paper Source Type: research