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Publication Detail
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM
  • Publication date:
  • Pagination:
    65, 70
  • Journal:
    J Peripher Nerv Syst
  • Volume:
  • Issue:
  • Status:
  • Country:
    United States
  • Language:
  • Keywords:
    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
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.
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Neurodegenerative Diseases
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