{'fraction_non_alphanumeric': 0.020435967302452316, 'fraction_numerical': 0.010899182561307902, 'mean_word_length': 5.447368421052632, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Mutations in over 50 genes have been associated with Charcot-Marie-Tooth (CMT) disease. As new genes continue to be discovered, the task of sequencing each of them individually with traditional techniques becomes increasingly burdensome. In addition, these approaches have disadvantages that may reduce their sensitivity. Exome sequencing uses targeted sequence capture of exons and next-generation sequencing to evaluate the sequence of all exons simultaneously. Here, we report a family with the CMT2C phenotype in whom exome sequencing revealed a novel mutation in the transient receptor potential vanilloid 4 (TRPV4) gene missed by previous Sanger sequencing.1