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Charcot–Marie–Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

D. Kabziska, MSc, H. Drac, MD, PhD, D. L. Sherman, PhD, A. Kostera-Pruszczyk, MD, PhD, P. J. Brophy, PhD, A. Kochaski, MD, PhD and I. Hausmanowa-Petrusewicz, MD, PhD

From the Neuromuscular Unit (D.K., H.D., A.K., I.H.-P.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland; Department of Neurology (H.D., A.K.-P.), Medical University of Warsaw, Poland; and Centre for Neuroscience Research (D.L.S., P.J.B.), University of Edinburgh, United Kingdom.

Address correspondence and reprint requests to Dr. Andrzej Kochaski, Neuromuscular Unit Mossakowski, Medical Research Centre, Polish Academy of Sciences Pawiskiego 5, 02-106 Warsaw, Poland; e-mail: andko{at}cmdik.pan.pl

Charcot–Marie–Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.

Supported by grants of KBN 2P05E 112 28, PBZ-KBN-122/P05/01-3, and the Wellcome Trust.

Disclosure: The authors report no conflicts of interest.

Received August 3, 2005. Accepted in final form November 15, 2005.