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Few studies have identified genetic causes of CMT in the Pakistani patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>This study was performed to identify pathogenic mutations in five consanguineous Pakistani CMT families negative for <jats:italic>PMP22<\/jats:italic> duplication. Genomic screening was performed by application of whole exome sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We identified five pathogenic or likely pathogenic homozygous mutations in four genes: c.2599C\u2009&gt;\u2009T (p.Gln867*) and c.3650G\u2009&gt;\u2009A (p.Gly1217Asp) in <jats:italic>SH3TC2<\/jats:italic>, c.19C\u2009&gt;\u2009T (p.Arg7*) in <jats:italic>HK1<\/jats:italic>, c.247delG (p.Gly83Alafs*44) in <jats:italic>REEP1<\/jats:italic>, and c.334G\u2009&gt;\u2009A (p.Val112Met) in <jats:italic>MFN2<\/jats:italic>. These mutations have not been reported in CMT patients. Mutations in <jats:italic>SH3TC2<\/jats:italic>, <jats:italic>HK1<\/jats:italic>, <jats:italic>REEP1<\/jats:italic>, and <jats:italic>MFN2<\/jats:italic> have been reported to be associated with CMT4C, CMT4G, dHMN5B (DSMA5B), and CMT2A, respectively. The genotype\u2013phenotype correlations were confirmed in all the examined families. We also confirmed that both alleles from the homozygous variants originated from a single ancestor using homozygosity mapping.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This study found five novel mutations as the underlying causes of CMT. Pathogenic mutations in <jats:italic>SH3TC2, HK1<\/jats:italic>, and <jats:italic>REEP1<\/jats:italic> have been reported rarely in other populations, suggesting ethnic-specific distribution. This study would be useful for the exact molecular diagnosis and treatment of CMT in Pakistani patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01019-5","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T12:03:23Z","timestamp":1625054603000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel homozygous mutations in Pakistani families with Charcot\u2013Marie\u2013Tooth disease"],"prefix":"10.1186","volume":"14","author":[{"given":"Sumaira","family":"Kanwal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu JIn","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si On","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee Ji","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Hee","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rana","family":"Nuzhat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aneela","family":"khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shazia","family":"Perveen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"1019_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1159\/000443706","volume":"46","author":"LC Barreto","year":"2016","unstructured":"Barreto LC, Oliveira FS, Nunes PS, de Fran\u00e7a Costa IM, Garcez CA, Goes GM, et al. 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