Document Detail

Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
MedLine Citation:
PMID:  18949782     Owner:  NLM     Status:  MEDLINE    
Charcot-Marie-Tooth disease (CMT) is among the most common inherited disorders of the peripheral nervous system, and it is broadly categorized as demyelinating type 1 or axonal type 2 based on nerve conduction studies. Mutations in discrete genes usually segregate into a single phenotype. However, mutations in connexin 32 (Cx32) can produce both axonal and demyelinating CMT phenotypes. Although over 300 mutations have been described in Cx32, somatic mosaicism has only been reported once previously. We report a 39-year-old man who was referred for electrodiagnostic evaluation due to a history of bilateral carpal tunnel syndrome. His physical examination and electrodiagnostic findings demonstrated a mild sensorimotor axonal peripheral neuropathy. Sequencing of his Cx32 (GJB1) gene identified a guanine-to-adenine (G>A) transition at nucleotide position 95. This transition mutation involved approximately one-third of leukocyte-derived genomic DNA. This is the second reported case of somatic mosaicism, and it highlights the phenotypic diversity among CMTX patients.
Steven K Baker; Cara C Reith; Peter J Ainsworth
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Muscle & nerve     Volume:  38     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-10-29     Completed Date:  2009-04-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1510-4     Citation Subset:  IM    
Department of Medicine, Division of Neurology, Neuromuscular Disease Clinic, McMaster University Medical Center, 120 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.
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MeSH Terms
Alanine / genetics*
Arginine / genetics*
Charcot-Marie-Tooth Disease / genetics*,  physiopathology
Connexins / genetics*
DNA Mutational Analysis
Mutation / genetics*
Reg. No./Substance:
0/Connexins; 0/connexin 32; 56-41-7/Alanine; 74-79-3/Arginine

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