Kulshrestha, R;
Burton-Jones, S;
Antoniadi, T;
Rogers, M;
Jaunmuktane, Z;
Brandner, S;
Kiely, N;
... Willis, T; + view all
(2017)
Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
Neuromuscular Disorders
, 27
(8)
pp. 766-770.
10.1016/j.nmd.2017.05.001.
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Abstract
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c.-5413 to approximately - c.-49. This matches the sequence of 32 nucleotides at positions c.*218-*249 in the 3'UTR downstream of the GJB1 gene. The deleted fragment included the entire P2 promoter region. The deletion segregated with the disease. To our knowledge a deletion of the P2 promoter alone as a cause of CMT has not been reported previously.
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