کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5632016 | 1406523 | 2017 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Case reportDeletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease Case reportDeletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease](/preview/png/5632016.png)
- Report of novel mutation as a cause of CMT
- Complete deletion of P2 promoter region of GJB1 gene
- Supporting the observation that P2 promoter is central for Schwann cell function.
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.
Journal: Neuromuscular Disorders - Volume 27, Issue 8, August 2017, Pages 766-770