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

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

Research output: Contribution to journalArticle

9 Scopus citations

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

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene'. Together they form a unique fingerprint.

  • Cite this

    Bissar-Tadmouri, N., Nelis, E., Züchner, S., Parman, Y., Deymeer, F., Serdaroglu, P., De Jonghe, P., Van Gerwen, V., Timmerman, V., Schröder, J. M., & Battaloglu, E. (2004). Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. Neurology, 62(9), 1522-1525. https://doi.org/10.1212/01.WNL.0000123253.57555.3A