PMC:5069600 / 4935-6599 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5069600","sourcedb":"PMC","sourceid":"5069600","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5069600","text":"Patient Selection of Original Study for WES\nTo identify novel AR‐CMT disease‐causing genes using WES analyses, we collected DNA samples in a first case series of 372 Japanese patients with clinically diagnosed CMT between April 2007 and April 2012. Subsequently, we excluded 69 patients with pathogenic mutations in the 28 genes known to cause CMT or IPN (Supplementary Table 1), which were detected using the custom MyGeneChip CustomSeq Resequencing Array (Affymetrix, Inc., Santa Clara, CA) following the protocol described previously.14, 15, 16, 17 We performed WES in the remaining 303 patients and excluded 85 patients with pathogenic mutations in the known CMT genes and in other IPN genes (Supplementary Table 1). We also excluded 55 patients suspected of AD or X‐linked inheritance pattern on the basis of family history information as well as undetermined inheritance. After these exclusions, we selected 163 unrelated patients with presumed AR inheritance or with sporadic inheritance and no known genetic etiology (Fig 1).\nFigure 1 Flow chart for genetic tests, selection of patients, and exome‐based shared variants detection (ESVD) system among the first case series of 372 Charcot–Marie–Tooth (CMT) patients, we selected 163 patients with presumed autosomal‐recessive or sporadic CMT and no known genetic etiology. Using the ESVD system, we automatically performed variant filtering under the conditions (1) to (6). Subsequently, we identified 5 patients with a mutation in the MME gene by the shared variants/genes pickup system. AD = autosomal‐dominant; AR = autosomal‐recessive; SNV = single‐nucleotide variation; MAF = minor allele frequency.\n\nP","divisions":[{"label":"Title","span":{"begin":0,"end":43}},{"label":"Figure caption","span":{"begin":1034,"end":1663}}],"tracks":[]}