MCKD1
Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (?1.5-5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1.
Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with <span class="disease" id="23396133-3-114-119">MCKD1</span> harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (&sim;1.5-5 kb), GC-rich (&gt;80%) coding variable-number tandem repeat (VNTR) sequence in the <span class="gene" id="23396133-3-488-492">MUC1</span> gene encoding <span class="gene" id="23396133-3-507-514">mucin 1</span>.