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Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

From the Department of Molecular Biology and Genetics (Drs. Bissar-Tadmouri and Battaloglu), Bogazici University, and Neurology Department (Drs. Parman, Deymeer, and Serdaroglu), Istanbul Faculty of Medicine, Istanbul University, Turkey; Department of Molecular Genetics (Drs. Nelis, De Jonghe, and Timmerman, V. Van Gerwen), Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium; and Department of Neuropathology (Drs. Züchner and Schröder), University Hospital, RWTH Aachen, Germany.

Address correspondence and reprint requests to Dr. E. Battaloglu, Department of Molecular Biology and Genetics, Bogazici University, 34342 Bebek, Istanbul, Turkey; e-mail: battalog{at}boun.edu.tr

Background: Charcot–Marie–Tooth disease type 2A (CMT2A) was assigned to a 19.3-cM region on chromosome 1p35-36. A missense mutation in the kinesin family member 1B gene (KIF1B) was reported in a single CMT2A family.

Objective: To report the clinical and genetic data of a Turkish family with CMT2A.

Methods: Linkage to CMT2 loci was investigated in the family. Haplotype analysis of the CMT2A region was completed using additional single-nucleotide polymorphism and short tandem repeat markers. The KIF1B gene was sequenced on genomic DNA and cDNA in two patients.

Results: A recombination event narrowed the CMT2A locus to a 9.3-cM region flanked by D1S160 and D1S434. No mutation in KIF1B was found.

Conclusion: The exclusion of KIF1B gene mutations in this family suggests the involvement of another CMT2A gene in the linked region.

Received September 24, 2003. Accepted in final form January 8, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 11 issue to find the title link for this article.

The first three authors contributed equally to the study.

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