Open Journal of Genetics

Volume 4, Issue 6 (December 2014)

ISSN Print: 2162-4453   ISSN Online: 2162-4461

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Point Mutation Analysis of PMP22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies

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DOI: 10.4236/ojgen.2014.46040    5,890 Downloads   6,677 Views  

ABSTRACT

A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, suggesting a point mutation hotspot for individuals with this condition. Sequencing analysis of PMP22 exon 5 should therefore be included as a routine diagnostic test for gene deletion-negative patients.

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Brown, S. and Bunyan, D. (2014) Point Mutation Analysis of PMP22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies. Open Journal of Genetics, 4, 426-433. doi: 10.4236/ojgen.2014.46040.

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