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

被引：9

作者：

Bissar-Tadmouri, N

Nelis, E

Züchner, S

Parman, Y

Deymeer, F

Serdaroglu, P

De Jonghe, P

Van Gerwen, V

Timmerman, V

Schröder, JM

Battaloglu, E ^{[1
]}

机构：

[1] Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey

[2] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey

[3] Univ Antwerp VIB, Dept Mol Genet, Antwerp, Belgium

[4] Rhein Westfal TH Aachen, Univ Hosp, Dept Neuropathol, Aachen, Germany

来源：

NEUROLOGY | 2004年 / 62卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000123253.57555.3A

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1522 / 1525

页数：4

共 24 条

[21] Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13 [J].