TY - JOUR AU - Jones, Takako I. AU - Yan, Chi AU - Sapp, Peter C. AU - McKenna-Yasek, Diane AU - Kang, Peter B. AU - Quinn, Colin AU - Salameh, Johnny S. AU - King, Oliver D. AU - Jones, Peter L. PY - 2014 DA - 2014/10/29 TI - Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing JO - Clinical Epigenetics SP - 23 VL - 6 IS - 1 AB - Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve analysis of high molecular weight (HMW) genomic DNA isolated from lymphocytes, followed by multiple restriction digestions, pulse-field gel electrophoresis (PFGE), and Southern blotting. A subject is genetically diagnosed as FSHD1 if one of the 4q alleles shows a contraction in the D4Z4 array to below 11 repeats, while maintaining at least 1 repeat, and the contraction is in cis with a disease-permissive A-type subtelomere. FSHD2 is contraction-independent and cannot be diagnosed or excluded by this common genetic diagnostic procedure. However, FSHD1 and FSHD2 are linked by epigenetic deregulation, assayed as DNA hypomethylation, of the D4Z4 array on FSHD-permissive alleles. We have developed a PCR-based assay that identifies the epigenetic signature for both types of FSHD, distinguishing FSHD1 from FSHD2, and can be performed on genomic DNA isolated from blood, saliva, or cultured cells. SN - 1868-7083 UR - https://doi.org/10.1186/1868-7083-6-23 DO - 10.1186/1868-7083-6-23 ID - Jones2014 ER -