Here, we used whole exome sequencing (WES), coupling the Agilent whole exome capture system to the Illumina HiSeq 2000 DNA sequencing platform, to identify a Chinese female with MEN 2A-related MTC carrying the p.C634Y/V292M/R67H/R982C mutation of RET, in whom p.C634Y was maternal with 5 carriers with MEN2A, and p.V292M/R67H/R982C was paternal with 6 carriers. This evidence concerns the gene RET and medullary thyroid gland carcinoma.