Christina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, Izabela Karbassi, Jeremiah R Jones, Matthew C Evans, Corey D Braastad, Crystal M Bishop, Malgorzata Jaremko, Zhenyuan Wang, Khalida Liaquat, Carol A Hoffman, Michelle D York, Sat D Batish, James R Lupski, Joseph J Higgins
We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and RAB7A) associated with Charcot-Marie-Tooth disease (CMT) in a cohort of 17,880 individuals referred to a commercial genetic testing laboratory. Deidentified results from sequencing assays and multiplex ligation-dependent probe amplification (MLPA) were analyzed including 100,102 Sanger sequencing, 2338 next-generation sequencing (NGS), and 21,990 MLPA assays...
November 2014: Molecular Genetics & Genomic Medicine