Development and Validation of a Mass Spectrometry –Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease

Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within the variable number tandem repeat region of the MUC1 gene. Because of variable age of disease onset and often subtle signs and symptoms, clinical diagnosis of mucin-1 kidney disease and differentiation from other forms of hereditary kidney disease have been difficult. The causal insertion resides in a variable number tandem repeat region with high GC content, which has made detection by standard next-generation sequencing impossible to date.

Source: Journal of Molecular Diagnostics - May 5, 2016 Category: Pathology Authors: Brendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, Anthony J. Bleyer, Stanislav Kmoch, Todd A. Carter, Andreas Gnirke, Kendrah Kidd, Heidi L. Rehm, Lucienne Ronco, Eric S. Lander, Stacey Gabriel, Niall J. Lennon Tags: Regular article Source Type: research