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      A Family Harboring CMT1A Duplication and HNPP Deletion

      case-report

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          Abstract

          Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.

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          Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

          James R. Lupski, Katherine Berry, A Teebi … (2002)
          Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B. To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations. In the process of screening the above cohort of patients as well as other patients for CMT-causative mutations, we identified several previously unreported mutant alleles: two for connexin 32, three for myelin protein zero, and two for peripheral myelin protein 22. The peripheral myelin protein 22 mutation W28R was associated with CMT1 and profound deafness. One patient with a CMT2 clinical phenotype had three myelin protein zero mutations (I89N+V92M+I162M). Because one-third of the mutations we report arose de novo and thereby caused chronic sporadic neuropathy, we conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.
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            T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

            John Kamholz, James R. Lupski, S Scherer … (2006)
            To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. We analyzed patients from five separate kindreds and characterized their peripheral nerve function by clinical and electrophysiological methods. All heterozygous patients had clinical and/or electrophysiological features of a neuropathy similar to hereditary neuropathy with liability to pressure palsies (HNPPs). The homozygous patient had a severe axonal neuropathy without features of demyelination. These findings suggest that T118M PMP22 retains some normal PMP22 activity, allowing the formation of compact myelin and normal nerve conduction velocities in the homozygous state. Taken together, these findings suggest that T118M is a pathogenic mutation causing a dominantly inherited form of CMT by a partial loss of PMP22 function.
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              Charcot-Marie-Tooth disease: an update.

              Michael Shy (2004)
              The purpose of this review is to assist neurologists, neuroscientists and other interested readers in following the expanding volume of information relating to the inherited peripheral neuropathies collectively referred to as Charcot-Marie-Tooth disease. Currently, mutations in multiple different genes expressed in Schwann cells and neurons cause a variety of overlapping clinical phenotypes. Recent articles clarify molecular pathways involved in the pathogenesis of these disorders, and for the first time provide rational treatment strategies for the most common form of Charcot-Marie-Tooth disease. The identification of many new genes associated with neuropathy demonstrate the role of axonal transport and abnormal protein trafficking in causing various forms of Charcot-Marie-Tooth. They also further define the role of axonal signaling and the molecular architecture of both Schwann cells and neurons in maintaining normal peripheral nervous system function. Finally, recent reports have shown that progesterone antagonists and ascorbic acid can successfully treat rodent models of Charcot-Marie-Tooth disease type 1A. Taken together, results from these articles support the concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray system to identify molecules necessary for normal peripheral nervous system function. When we can make sense of these microarrays we are likely to understand the pathogenesis and develop rational therapies for many neurodegenerative diseases including Charcot-Marie-Tooth.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Clin Neurol
                Journal ID (publisher-id): JCN
                Title: Journal of Clinical Neurology (Seoul, Korea)
                Publisher: Korean Neurological Association
                ISSN (Print): 1738-6586
                ISSN (Electronic): 2005-5013
                Publication date (Print): June 2007
                Publication date (Electronic): 20 June 2007
                Volume: 3
                Issue: 2
                Pages: 101-104
                Affiliations
                [a ]Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea.
                [b ]Department of Neurology, Kyung Hee University, East West Neo Medical Center, Seoul, Korea.
                [c ]Department of Biological Science, Kongju National University, Gongju, Korea.
                Author notes
                Address for correspondence: Byung-Ok Choi, M.D., Ph.D. Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Dongdaemun Hospital, 70 Jongno 6-ga, Jongno-gu, Seoul, 110-783, Korea. Tel: +82-2-760-5257, Fax: +82-2-760-5008, bochoi@ 123456ewha.ac.kr
                Article
                DOI: 10.3988/jcn.2007.3.2.101
                PMC ID: 2686856
                PubMed ID: 19513300
                SO-VID: 3db9e8f5-75e8-4686-9eb9-70f54578b62b
                Copyright © Copyright © 2007 Korean Neurological Association
                History
                Date received : 13 February 2007
                Date accepted : 16 April 2007
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Neurology
                Keywords: charcot-marie-tooth disease,hnpp,pmp22
                Data availability:
                ScienceOpen disciplines: Neurology
                Keywords: charcot-marie-tooth disease, hnpp, pmp22

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