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    A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

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    Authors
    Murphy, Sinéad M
    Polke, James
    Manji, Hadi
    Blake, Julian
    Reiniger, Lilla
    Sweeney, Mary
    Houlden, Henry
    Brandner, Sebastian
    Reilly, Mary M
    Affiliation
    MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. sinead.murphy@uclh.nhs.uk
    Issue Date
    2011-03
    MeSH
    5' Untranslated Regions
    Adult
    Age of Onset
    Aged
    Base Sequence
    Charcot-Marie-Tooth Disease
    Connexins
    Electrophysiology
    Female
    Genetic Diseases, X-Linked
    Humans
    Male
    Middle Aged
    Molecular Sequence Data
    Mutation
    Pedigree
    Young Adult
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    Citation
    A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. 2011, 16 (1):65-70 J. Peripher. Nerv. Syst.
    Publisher
    Journal of the peripheral nervous system : JPNS
    Journal
    Journal of the peripheral nervous system : JPNS
    URI
    http://hdl.handle.net/10147/254554
    DOI
    10.1111/j.1529-8027.2011.00321.x
    PubMed ID
    21504505
    Abstract
    X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene which codes for connexin 32 (CX32). CX32 has three tissue-specific promoters, P1 which is specific for liver and pancreas, P1a specific for liver, oocytes and embryonic stem cells, and P2 which is nerve-specific. Over 300 mutations have been described in GJB1, spread throughout the coding region. We describe two families with X-linked inheritance and a phenotype consistent with CMT1X who did not have mutations in the GJB1 coding region. The non-coding region of GJB1 was sequenced and an upstream exon-splicing variant found at approximately - 373G>A which segregated with the disease in both families and was not present in controls. This substitution is located at the last base of the nerve-specific 5'UTR and thus may disrupt splicing of the nerve-specific transcript. Online consensus splice-site programs predict a reduced score for the mutant sequence vs. the normal sequence. It is likely that other mutations within the GJB1 non-coding regions account for the CMT1X families who do not have coding region mutations.
    Item Type
    Article
    Language
    en
    ISSN
    1529-8027
    ae974a485f413a2113503eed53cd6c53
    10.1111/j.1529-8027.2011.00321.x
    Scopus Count
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    Tallaght University Hospital

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