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Article

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients

1
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea
2
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea
3
Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul 05278, Korea
4
Cell & Gene Therapy Institute, Samsung Medical Center, Seoul 06351, Korea
*
Authors to whom correspondence should be addressed.
Academic Editor: Fabio Coppedè
Genes 2022, 13(7), 1219; https://doi.org/10.3390/genes13071219
Received: 2 June 2022 / Revised: 27 June 2022 / Accepted: 4 July 2022 / Published: 8 July 2022
(This article belongs to the Special Issue Genetics and Epigenetics of Neuromuscular Diseases)
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype–phenotype correlation in Korean CMT families. By the application of whole-exome sequencing (WES) and targeted gene panel sequencing (TS), we identified 14 pathogenic or likely pathogenic PMP22 mutations in 21 families out of 850 CMT families who were negative for 17p12 (PMP22) duplication. Most mutations were located in the well-conserved transmembrane domains. Of these, eight mutations were not reported in other populations. High frequencies of de novo mutations were observed, and the mutation sites of c.68C>G and c.215C>T were suggested as the mutational hotspots. Affected individuals showed an early onset-severe phenotype and late onset-mild phenotype, and more than 40% of the CMT1E patients showed hearing loss. Physical and electrophysiological symptoms of the CMT1E patients were more severely damaged than those of CMT1A while similar to CMT1B caused by MPZ mutations. Our results will be useful for the reference data of Korean CMT1E and the molecular diagnosis of CMT1 with or without hearing loss. View Full-Text
Keywords: Charcot-Marie-Tooth disease type 1E (CMT1E); Korean; PMP22; point mutation; whole-exome sequencing Charcot-Marie-Tooth disease type 1E (CMT1E); Korean; PMP22; point mutation; whole-exome sequencing
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MDPI and ACS Style

Jung, N.Y.; Kwon, H.M.; Nam, D.E.; Tamanna, N.; Lee, A.J.; Kim, S.B.; Choi, B.-O.; Chung, K.W. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. Genes 2022, 13, 1219. https://doi.org/10.3390/genes13071219

AMA Style

Jung NY, Kwon HM, Nam DE, Tamanna N, Lee AJ, Kim SB, Choi B-O, Chung KW. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. Genes. 2022; 13(7):1219. https://doi.org/10.3390/genes13071219

Chicago/Turabian Style

Jung, Na Young, Hye Mi Kwon, Da Eun Nam, Nasrin Tamanna, Ah Jin Lee, Sang Beom Kim, Byung-Ok Choi, and Ki Wha Chung. 2022. "Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients" Genes 13, no. 7: 1219. https://doi.org/10.3390/genes13071219

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