Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
Abstrakt
Chronic kidney disease (CKD) can be caused by various systemic and kidney disorders with overlapping or nonspecific clinical presentations. Despite a thorough diagnostic workup, the primary cause of CKD remains uncertain in 20% to 35% of affected individuals.
Recent studies have demonstrated that massively parallel sequencing (MPS) can be a useful additional tool in the diagnostic workup of patients with unexplained CKD, providing a molecular diagnosis in 11% to 56% of cases. Establishing the correct diagnosis through MPS may not only have therapeutic consequences but may also improve detection of extrarenal manifestations (reverse phenotyping), improve genetic counseling of patients and their relatives, and influence donor selection for (living-related) transplantation.
Here, we describe a large Dutch family with interstitial kidney disease of unknown origin in whom we identified a novel frameshift mutation in the MUC1 gene, encoding mucin 1, using an MPS-based multigene panel.