%0 Journal Article
%T Development and Validation of a Mass Spectrometry¨CBased Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
%A Andreas Gnirke
%A Anthony J. Bleyer
%A Brendan Blumenstiel
%A Eric S. Lander
%A Heidi L. Rehm
%A Kendrah Kidd
%A Lucienne Ronco
%A Matthew DeFelice
%A Niall J. Lennon
%A Ozge Birsoy
%A Stacey Gabriel
%A Stanislav Kmoch
%A Todd A. Carter
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.03.003
%X 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.
%U https://jmd.amjpathol.org/article/S1525-1578(16)30020-4/fulltext