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

N. Bissar-Tadmouri, E. Nelis, Stephan L Zuchner, Y. Parman, F. Deymeer, P. Serdaroglu, P. De Jonghe, V. Van Gerwen, V. Timmerman, J. M. Schröder, E. Battaloglu

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)1522-1525
Number of pages4
JournalNeurology
Volume62
Issue number9
StatePublished - May 11 2004
Externally publishedYes

Fingerprint

Kinesin
Mutation
Genes
Type 2A Charcot-Marie-Tooth disease
Missense Mutation
Microsatellite Repeats
Haplotypes
Genetic Recombination
Single Nucleotide Polymorphism
Complementary DNA
Chromosomes
DNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bissar-Tadmouri, N., Nelis, E., Zuchner, S. L., Parman, Y., Deymeer, F., Serdaroglu, P., ... Battaloglu, E. (2004). Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. Neurology, 62(9), 1522-1525.

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. / Bissar-Tadmouri, N.; Nelis, E.; Zuchner, Stephan L; Parman, Y.; Deymeer, F.; Serdaroglu, P.; De Jonghe, P.; Van Gerwen, V.; Timmerman, V.; Schröder, J. M.; Battaloglu, E.

In: Neurology, Vol. 62, No. 9, 11.05.2004, p. 1522-1525.

Research output: Contribution to journalArticle

Bissar-Tadmouri, N, Nelis, E, Zuchner, SL, Parman, Y, Deymeer, F, Serdaroglu, P, De Jonghe, P, Van Gerwen, V, Timmerman, V, Schröder, JM & Battaloglu, E 2004, 'Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene', Neurology, vol. 62, no. 9, pp. 1522-1525.
Bissar-Tadmouri N, Nelis E, Zuchner SL, Parman Y, Deymeer F, Serdaroglu P et al. Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. Neurology. 2004 May 11;62(9):1522-1525.
Bissar-Tadmouri, N. ; Nelis, E. ; Zuchner, Stephan L ; Parman, Y. ; Deymeer, F. ; Serdaroglu, P. ; De Jonghe, P. ; Van Gerwen, V. ; Timmerman, V. ; Schröder, J. M. ; Battaloglu, E. / Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. In: Neurology. 2004 ; Vol. 62, No. 9. pp. 1522-1525.
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