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Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease

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. Green open access

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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.

Type: Article
Title: Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2017.05.001
Publisher version: http://doi.org/10.1016/j.nmd.2017.05.001
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Charcot-Marie-Tooth disease, Connexin 32, Deletion, GJB1, P2 promoter, Schwann cell dysfunction, X-linked
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1562209
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