A Rare Case of Charcot-Mari-Tooth Disease Type 2S in a 20-year-old Man
V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University. Krasnoyarsk, the Russian Federation
*Corresponding author: Prof. Natalia A. Shnayder, PhD, ScD; Head of the Neurological Center of Epileptology, Neurogenetics and Brain Research of the University Clinic of V.F. Voino-Yasenetsky Krasnoyarsk State Medical University. Krasnoyarsk, the Russian Federation. E-mail: firstname.lastname@example.org
Published: December 15, 2017. doi: 10.21103/Article7(4)_CR1
Charcot-Marie-Tooth disease type 2 (CMT2S) is rare form of Charcot-Marie-Tooth disease (CMT) that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of the immunoglobulin mu chain switch. Mutation of this gene leads to spinal muscle atrophy with respiratory distress type 1 and CMT2S. This case report presents a 20-year-old male with genetically confirmed CMT2S having clinical respiratory involvement and symmetrically involved lower extremities. DNA sequencing revealed a previously unknown heterozygous mutation in the exone 2 of the IGHMBP2 gene leading to the replacement of the amino acid in the 46 position of the protein (chr11q13.3: 68673587 G>C). These atypical features widen the clinical spectrum of CMT2S. In describing this clinical case, we also improve diagnostic management and try to increase the alertness of various doctors towards neuromuscular diseases, including CMT.
- Klein CJ, Duan XH, Shy ME. Inherited neuropathies: clinical overview and update. Muscle Nerve. 2013; 48(4): 604–22. doi: 10.1002/mus.23775.
- Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ,et al. Comparison of CMT1A and CMT2: similarities and differences. J Neurol. 2006;253(12):1572–1580.
- Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2013;9(19):562–71. doi: 10.1038/nrneurol.2013.179.
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S;CMT2S. Available from: https://www.omim.org/entry/616155
- Rudnik-Schoneborn S, Auer-Grumbach M, Senderek J. Hereditary Neuropathies: Update 2017. Neuropediatrics 2017; 48 (4):282-293. doi: 10.1055/s-0037-1603518.
- Shy M, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: An overview of clinical, genetic, electrophysiologicc and pathologic features. Dyck PJ, Thomas PK, eds. Peripheral neuropathy 4th edh. Philadelphia: Elsevier Saunders; 2005: 1623-1658.
- Dadali EL, Sharkova IV, Nikitin SS, Konovalov FA. New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2. Neuromuscular Diseases. 2016; 6(2):52-57. (Article in Russian)
- Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth Disease type 2. Am J Hum Genet. 2014; 95 (5):590-601. doi: 10.1016/j.ajhg.2014.10.002.
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International Journal of Biomedicine. 2017;7(4):324-326. ©2017 International Medical Research and Development Corporation. All rights reserved.