{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:17:48Z","timestamp":1783952268917,"version":"3.55.0"},"reference-count":57,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T00:00:00Z","timestamp":1674777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institutional Fund Projects","award":["IFPIP-843-141-1443"],"award-info":[{"award-number":["IFPIP-843-141-1443"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Charcot\u2013Marie\u2013Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix\u2013Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960), CMT4F (OMIM: 614895) is caused by PRX (OMIM: 605725), CMTX1 (OMIM: 302800) is caused by mutations in GJB1 (OMIM: 304040), and ARSACS (OMIM: 270550) is caused by mutations in SACS (OMIM: 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, and ICP-RD11, with 16 affected individuals, for clinical and molecular diagnoses. One patient from each family was analyzed for whole exome sequencing and Sanger sequencing was done for the rest of the family members. Affected individuals of families BD-06 and MR-01 show complete CMT phenotypes and family ICP-RD11 shows ARSACS type. Family DG-01 shows complete phenotypes for both CMT and ARSACS types. The affected individuals have walking difficulties, ataxia, distal limb weakness, axonal sensorimotor neuropathies, delayed motor development, pes cavus, and speech articulations with minor variations. The WES analysis in an indexed patient of family DG-01 identified two novel variants: c.83G&gt;T (p.Gly28Val) in MPV17 and c.4934G&gt;C (p.Arg1645Pro) in SACS. In family ICP-RD11, a recurrent mutation that causes ARSACS, c.262C&gt;T (p.Arg88Ter) in SACS, was identified. Another novel variant, c.231C&gt;A (p.Arg77Ter) in PRX, which causes CMT4F, was identified in family BD-06. In family MR-01, a hemizygous missense variant c.61G&gt;C (p.Gly21Arg) in GJB1 was identified in the indexed patient. To the best of our knowledge, there are very few reports on MPV17, SACS, PRX, and GJB1 causing CMT and ARSACS phenotypes in the Pakistani population. Our study cohort suggests that whole exome sequencing can be a useful tool in diagnosing complex multigenic and phenotypically overlapping genetic disorders such as Charcot\u2013Marie\u2013Tooth disease (CMT) and spastic ataxia of Charlevoix\u2013Saguenay type.<\/jats:p>","DOI":"10.3390\/genes14020328","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T06:06:13Z","timestamp":1675058773000},"page":"328","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot\u2013Marie\u2013Tooth and Spastic Ataxia of Charlevoix\u2013Saguenay Type Diseases"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1261-2990","authenticated-orcid":false,"given":"Qaiser","family":"Zaman","sequence":"first","affiliation":[{"name":"Department of Zoology, Government Postgraduate College Dargai, Malakand 23060, Pakistan"},{"name":"Higher Education Department, Government of Khyber Pakhtunkhwa, Peshawar 24550, Pakistan"},{"name":"Department of Zoology, Abdul Wali Khan University, Mardan 23200, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9856-0935","authenticated-orcid":false,"given":"Muhammad Abbas","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Zoology, Government Postgraduate College Dargai, Malakand 23060, Pakistan"},{"name":"Higher Education Department, Government of Khyber Pakhtunkhwa, Peshawar 24550, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3586-9991","authenticated-orcid":false,"given":"Kalsoom","family":"Sahar","sequence":"additional","affiliation":[{"name":"Department of Zoology, Government Postgraduate College Dargai, Malakand 23060, Pakistan"},{"name":"Higher Education Department, Government of Khyber Pakhtunkhwa, Peshawar 24550, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8059-9591","authenticated-orcid":false,"given":"Gauhar","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Zoology, Abdul Wali Khan University, Mardan 23200, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Zoology, Government Postgraduate College Dargai, Malakand 23060, Pakistan"},{"name":"Higher Education Department, Government of Khyber Pakhtunkhwa, Peshawar 24550, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehwish","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Zoology, Government Postgraduate College Dargai, Malakand 23060, Pakistan"},{"name":"Higher Education Department, Government of Khyber Pakhtunkhwa, Peshawar 24550, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Najumuddin","sequence":"additional","affiliation":[{"name":"National Center for Bioinformatics, Quid-I-Azam University, Islamabad 45320, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4845-9227","authenticated-orcid":false,"given":"Ilyas","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Institute for Cardiogenetics, University of L\u00fcbeck, DZHK (German Research Centre for Cardiovascular Research), Partner Site Hamburg\/L\u00fcbeck\/Kiel, and University Heart Centre L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0345-2144","authenticated-orcid":false,"given":"Muhmmad","family":"Tariq","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Genomics, Centre for Omic Sciences, Islamia College, Peshawar 25120, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3458-1697","authenticated-orcid":false,"given":"Osama Yousef","family":"Muthaffar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angham Abdulrhman","family":"Abdulkareem","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fehmida","family":"Bibi","sequence":"additional","affiliation":[{"name":"Special Infectious Agents Unit, King Fahd Medical Research Centre, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Imran","family":"Naseer","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Shah","family":"Faisal","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Genomics, Centre for Omic Sciences, Islamia College, Peshawar 25120, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naveed","family":"Wasif","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Ulm University Medical Center, Ulm University, 89081 Ulm, Germany"},{"name":"Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3421-0079","authenticated-orcid":false,"given":"Musharraf","family":"Jelani","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Genomics, Centre for Omic Sciences, Islamia College, Peshawar 25120, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,27]]},"reference":[{"key":"ref_1","first-page":"97","article-title":"On a specific form of frequently familial progressive muscular atrophy beginning in the feet and legs and later affecting the hands","volume":"6","author":"Charcot","year":"1886","journal-title":"Rev. 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