Contribution of copy number variations in CMT1X: a retrospective study. (12th April 2014)

• Record Type: Journal Article
• Authors: Capponi, S.; Geroldi, A.; Pezzini, I.; Gulli, R.; Ciotti, P.; Ursino, G.; Lamp, M.; Reni, L.; Schenone, A.; Grandis, M.; Mandich, P.; Bellone, E.
• Is Part Of: European journal of neurology. Volume 22:Number 2(2015:Feb.)
• Page Start: 406
• Page End: 409
• Publication Date: 2014-04-12
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12434
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12434-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12434-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>Charcot−Marie−Tooth disease type 1X (CMT1X) is an X‐linked dominant hereditary motor‐sensory peripheral neuropathy, which results from mutations in the <italic>Gap Junction B1</italic> (<italic>GJB1</italic>) gene. In a few cases, gene deletions have been linked to the disease, but their relative contribution in the pathogenesis of CMT1X has not been assessed yet. Herein a retrospective study to establish the incidence of gene deletions is described.</p> </sec> <sec id="ene12434-sec-0002" sec-type="section"> <title>Methods</title> <p>Copy number variation analysis was performed by multiplex ligation‐dependent probe amplification, whilst the breakpoints were defined by Sanger sequencing.</p> </sec> <sec id="ene12434-sec-0003" sec-type="section"> <title>Results</title> <p>A novel <italic>GJB1</italic> deletion was identified in a family presenting with a classical CMT1X phenotype. The rearrangement includes the coding and the regulatory regions of <italic>GJB1</italic>.</p> </sec> <sec id="ene12434-sec-0004" sec-type="section"> <title>Conclusions</title> <p> <italic>GJB1</italic> deletions appear to be a rare but not insignificant cause of CMT1X and are associated with a typical disease phenotype. Accordingly, patients negative for point mutations whose pedigree and clinical records strongly suggest the possibility of CMT1X should be tested for <italic>GJB1</italic> copy number variations.</p> </sec> </abstract>