| Summary: | (1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found <i>PMP22</i>, <i>GJB1</i>, <i>MPZ</i>, and <i>MFN2</i> as the most frequently involved genes. Other genes, such as <i>BSCL2</i>, <i>MORC2</i>, <i>HINT1</i>, <i>LITAF</i>, <i>GARS</i>, and autosomal dominant <i>GDAP1</i> are responsible for only a minority of CMT cases. (2) Methods: we present here our records of CMT patients harboring a mutation in one of these rare genes (<i>BSCL2</i>, <i>MORC2</i>, <i>HINT1</i>, <i>LITAF</i>, <i>GARS</i>, autosomal dominant <i>GDAP1</i>). We studied 17 patients from 8 unrelated families. All subjects underwent neurologic evaluation and genetic testing by next-generation sequencing on an Ion Torrent PGM (Thermo Fischer) with a 44-gene custom panel. (3) Results: the following variants were found: <i>BSCL2</i> c.263A > G p.Asn88Ser (eight subjects), <i>MORC2</i> c.1503A > T p.Gln501His (one subject), <i>HINT1</i> c.110G > C p.Arg37Pro (one subject), <i>LITAF</i> c.404C > G p.Pro135Arg (two subjects), <i>GARS</i> c.1660G > A p.Asp554Asn (three subjects), <i>GDAP1</i> c.374G > A p.Arg125Gln (two subjects). (4) Expanding the spectrum of CMT phenotypes is of high relevance, especially for less common variants that have a higher risk of remaining undiagnosed. The necessity of reaching a genetic definition for most patients is great, potentially making them eligible for future experimentations.
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