Analysis of Association of Deletion in the Repeat Region of the Periaxin Gene With Late Onset Motor Neuropathy

Leema Reddy Peddareddygari, Ilya Sobol, Harish B Pillai, Masamichi Ito, Sat D. Batish, Raji P. Grewal

Abstract


Background: Charcot-Marie-Tooth Disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The protein encoded by the periaxin (PRX) gene has a functional role in the maintenance of peripheral nerve myelin. Mutations in the PRX gene have been identified in autosomal recessive forms of Dejerine-Sottas neuropathy and Charcot Marie Tooth disease type 4F. Both of these conditions are characterized by early onset of a demyelinating neuropathy. 

Methods: We report two unrelated patients, a Caucasian American and an Asian American patient with late onset progressive neuropathy. We also ascertained family members of the Asian American patient for clinical and genetic evaluation. 

Results: We report heterozygous deletions in the repeat region of the PRX gene; the Caucasian patient developed symptoms as a teenager and has a 78 base pair deletion. The Asian patient became symptomatic in his forties and has a 15 base pair deletion and the same deletion was also identified in two other siblings with neuropathy. Both deletion mutations involve the repeat region in exon 7 of the PRX gene. In both patients, electrophysiological analysis demonstrates a predominantly motor neuropathy with demyelinating features. 

Conclusions: This is the first report of deletions involving the repeat region in exon 7 of the PRX gene. We present epidemiological data and discuss the possible significance of the association of these deletion mutations with neuropathy.




doi: http://dx.doi.org/10.4021/jnr154w


Keywords


Charcot-Marie-Tooth Disease; Adult onset; Periaxin gene; Repeat region; Deletion mutation; Axonal polyneuropathy

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