Jaehong Park1, Hyun Su Kim2, Hye Mi Kwon1, Jiah Kim1, Soo Hyun Nam1,3,4, Na Young Jung5, Ah Jin Lee5, Young Hee Jung6, Sang Beom Kim7, Ki Wha Chung8, Byung-Ok Choi9,10,11. 1. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. 2. Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, 06351, Seoul, Korea. 3. Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. 4. Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. 5. Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea. 6. Department of Neurology, College of Medicine, Myongji Hospital, Hanyang University, Goyang, Korea. 7. Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul, 05278, Korea. 8. Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea. kwchung@kongju.ac.kr. 9. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. bochoi77@hanmail.net. 10. Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. bochoi77@hanmail.net. 11. Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea. bochoi77@hanmail.net.
Abstract
BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C. OBJECTIVE: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features. METHODS: In total, 1,143 unrelated Korean families with CMT were enrolled in a cohort. We performed whole exome sequencing to identify LITAF mutations, and examined clinical phenotypes including electrophysiological and MRI features for the identified CMT1C patients. RESULTS: We identified 10 CMT1C patients from three unrelated families with p.G112S mutation in LITAF. The frequency of CMT1C among CMT1 patients was 0.59%, which is similar to reports from Western populations. CMT1C patients showed milder symptoms than CMT1A patients. The mean CMT neuropathy score version 2 was 7.7, and the mean functional disability scale was 1.0. Electrophysiological findings showed a conduction block in 22% of affected individuals. Lower extremity MRIs showed that the superficial posterior and anterolateral compartments of the calf were predominantly affected. CONCLUSIONS: We found a conduction block in Korean CMT1C patients with p.G112S mutation and first described the characteristic MRI findings of the lower extremities in patients with LITAF mutation. These findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.
BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C. OBJECTIVE: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features. METHODS: In total, 1,143 unrelated Korean families with CMT were enrolled in a cohort. We performed whole exome sequencing to identify LITAF mutations, and examined clinical phenotypes including electrophysiological and MRI features for the identified CMT1C patients. RESULTS: We identified 10 CMT1C patients from three unrelated families with p.G112S mutation in LITAF. The frequency of CMT1C among CMT1 patients was 0.59%, which is similar to reports from Western populations. CMT1C patients showed milder symptoms than CMT1A patients. The mean CMT neuropathy score version 2 was 7.7, and the mean functional disability scale was 1.0. Electrophysiological findings showed a conduction block in 22% of affected individuals. Lower extremity MRIs showed that the superficial posterior and anterolateral compartments of the calf were predominantly affected. CONCLUSIONS: We found a conduction block in Korean CMT1C patients with p.G112S mutation and first described the characteristic MRI findings of the lower extremities in patients with LITAF mutation. These findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.
Authors: Craig L Bennett; Andrew J Shirk; Huy M Huynh; Valerie A Street; Eva Nelis; Lionel Van Maldergem; Peter De Jonghe; Albena Jordanova; Velina Guergueltcheva; Ivailo Tournev; Peter Van Den Bergh; Pavel Seeman; Radim Mazanec; Tomas Prochazka; Ivo Kremensky; Jana Haberlova; Michael D Weiss; Vincent Timmerman; Thomas D Bird; Phillip F Chance Journal: Ann Neurol Date: 2004-05 Impact factor: 10.422
Authors: Na Young Jung; Hye Mi Kwon; Da Eun Nam; Nasrin Tamanna; Ah Jin Lee; Sang Beom Kim; Byung-Ok Choi; Ki Wha Chung Journal: Genes (Basel) Date: 2022-07-08 Impact factor: 4.141