Neuropediatrics 2005; 36(3): 206-209
DOI: 10.1055/s-2005-865606
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in the GDAP1 Gene

D. Kabzińska[*] 1 , A. Kochański,[*] 1 , H. Drac1 , 2 , B. Ryniewicz2 , K. Rowińska-Marcińska1 , 2 , I. Hausmanowa-Petrusewicz1
  • 1Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
  • 2Department of Neurology, Medical University, Warsaw, Poland
Further Information

Publication History

Received: October 28, 2004

Accepted after Revision: March 20, 2005

Publication Date:
09 June 2005 (online)

Abstract

A recessive demyelinating subtype of Charcot-Marie-Tooth disease called CMT4 is a heterogeneous group of disorders. A relatively frequent form of recessive CMT (CMT4 A) has been mapped to the chromosome 8 q21 and shown to be caused by mutations in the ganglioside-induced differentiation protein 1 (GDAP1) gene. Twenty mutations in the GDAP1 gene have been reported in patients suffering from the axonal and demyelinating forms of CMT disease. In this study we report two novel mutations in the GDAP1 gene in a patient suffering from CMT2 disease and whose parents were asymptomatic carriers of a Ser130Cys and 3′-splice site (311-1G > A) mutation, respectively.

References

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1 These authors contributed equally to this study

MD, PhD Andrzej Kochański

Neuromuscular Unit
Medical Research Centre
Polish Academy of Sciences

Pawińskiego 5

02-106 Warsaw

Poland

Email: andko@cmdik.pan.pl