{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T14:52:55Z","timestamp":1789051975238,"version":"build-2803163510"},"reference-count":38,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:p>\n                    Charcot\u2013Marie\u2013Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects. Nerve conduction study (NCS) and electromyography (EMG) were performed for the patients. Whole-exome sequencing (WES) followed by Sanger sequencing was applied to report the genetic basic of CMT. The NCS findings revealed that sensory and motor nerve conduction velocities for both families were &lt;38\u2009m\/s. EMG presented denervation, neuropathic motor unit potential, and reduced interference pattern of peripheral nerves. WES identified that a novel nonsense mutation (c. 226 G&gt;T) in\n                    <jats:italic toggle=\"yes\">GADP1<\/jats:italic>\n                    gene and a previously known missense mutation in\n                    <jats:italic toggle=\"yes\">MFN2<\/jats:italic>\n                    gene (c. 334 G&gt;A) cause CMT4A (Charcot\u2013Marie\u2013Tooth disease type 4A) in the PAK-CMT1-DG KHAN family and CMT2A (Charcot\u2013Marie\u2013Tooth disease type 2A) in the PAK-CMT2-LAYYAH family, respectively. Mutations followed Mendelian pattern with autosomal recessive mode of inheritance. Multiple sequence alignment by Clustal Omega indicated that mutation-containing domain in both genes is highly conserved, and\n                    <jats:italic toggle=\"yes\">in situ<\/jats:italic>\n                    analysis revealed that both mutations are likely to be pathogenic. We reported that a novel nonsense mutation and a previously known missense mutation in\n                    <jats:italic toggle=\"yes\">GAPD1<\/jats:italic>\n                    gene and\n                    <jats:italic toggle=\"yes\">MFN2<\/jats:italic>\n                    gene, respectively, cause CMT in consanguineous Pakistani families.\n                  <\/jats:p>","DOI":"10.1089\/dna.2023.0169","type":"journal-article","created":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T15:08:11Z","timestamp":1696518491000},"page":"697-708","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Homozygous Mutations in\n                    <i>GDAP1<\/i>\n                    and\n                    <i>MFN2<\/i>\n                    Genes Resulted in Autosomal Recessive Forms of Charcot\u2013Marie\u2013Tooth Disease in Consanguineous Pakistani Families"],"prefix":"10.1177","volume":"42","author":[{"given":"Muhammad","family":"Asif","sequence":"first","affiliation":[{"name":"Institute of Molecular Biology and Biotechnology. Bahauddin Zakariya University, Multan, Pakistan."},{"name":"Institute of Zoology, Bahauddin Zakariya University, Multan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Chun","family":"Chiou","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malik Fiaz","family":"Hussain","sequence":"additional","affiliation":[{"name":"Institute of Zoology, Bahauddin Zakariya University, Multan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manzoor","family":"Hussain","sequence":"additional","affiliation":[{"name":"Orthopedic Unit 1, Nishter Medical University Multan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zureesha","family":"Sajid","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Biotechnology. Bahauddin Zakariya University, Multan, Pakistan."},{"name":"Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, Baghdad-ul-Jadeed Campus, The Islamia University of Bahawalpur, Bahawalpur, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Gulsher","sequence":"additional","affiliation":[{"name":"Children Hospital and Institute of Child Health, Multan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afifa","family":"Raheem","sequence":"additional","affiliation":[{"name":"Institute of Zoology, Bahauddin Zakariya University, Multan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adil","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Botany and Zoology, Bacha Khan University, Charsadda, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasreen","family":"Nasreen","sequence":"additional","affiliation":[{"name":"Department of Zoology, Abdul Wali Khan University, Mardan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Kloczkowski","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA."},{"name":"Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mubashir","family":"Hassan","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4996-0152","authenticated-orcid":false,"given":"Furhan","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Institute of Zoology, Bahauddin Zakariya University, Multan, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Chin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan."},{"name":"Department of Cosmetic Science, Chia Nan University of Pharmacy and Science, Tainan, Taiwan."},{"name":"Ph.D. Program in Translational Medicine, Rong Hsing Research Center for Translational Medicine, National Chung Hsing University, Taichung, Taiwan."},{"name":"Department of Biotechnology and Bioindustry Sciences, College of Bioscience and Biotechnology, National Cheng Kung University, Tainan, Taiwan."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,11,10]]},"reference":[{"key":"e_1_3_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2008.01.010"},{"key":"e_1_3_7_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jcim.2c00126"},{"key":"e_1_3_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2021.105300"},{"key":"e_1_3_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng798"},{"key":"e_1_3_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv343"},{"key":"e_1_3_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308826"},{"key":"e_1_3_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.201500043"},{"key":"e_1_3_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/wcms.1410"},{"key":"e_1_3_7_10_1","doi-asserted-by":"publisher","DOI":"10.1039\/C7MB00211D"},{"key":"e_1_3_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-022-01031-2"},{"key":"e_1_3_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000319696.14225.67"},{"key":"e_1_3_7_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20061452"},{"key":"e_1_3_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.10.002"},{"issue":"2","key":"e_1_3_7_15_1","first-page":"108","article-title":"Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene","volume":"26","author":"Kabzi\u0144ska D","year":"2007","unstructured":"Kabzi\u0144ska D, , Saifi GM, , Drac H, et al. 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