additional gene found in Type 2A research from Turkey

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Research from Neurology May 2004 11;62(9):1522-5.

Absence of KIF1B mutation in a large Turkish CMT2A family suggests

involvement of a second gene.

Bissar-Tadmouri N, Nelis E, Zuchner S, Parman Y, Deymeer F, Serdaroglu

P, De Jonghe P, Van Gerwen V, Timmerman V, Schroder JM, Battaloglu E.

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.

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.