学术探索
学术期刊
新闻热点
数据分析
智能评审

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
收藏
页码：1522 / 1525
页数：4
相关论文
共 24 条
[1]   Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V [J].
Antonellis, A ;
Ellsworth, RE ;
Sambuughin, N ;
Puls, I ;
Abel, A ;
Lee-Lin, SQ ;
Jordanova, A ;
Kremensky, I ;
Christodoulou, K ;
Middleton, LT ;
Sivakumar, K ;
Ionasescu, V ;
Funalot, B ;
Vance, JM ;
Goldfarb, LG ;
Fischbeck, KH ;
Green, ED .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1293-1299
[2]  
BENOTHMANE K, 1993, GENOMICS, V17, P370
[3]  
COTTINGHAM RW, 1993, AM J HUM GENET, V53, P252
[4]  
De Jonghe P, 2001, ANN NEUROL, V49, P245, DOI 10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO
[5]  
2-A
[6]  
de Jonghe P, 1999, ANN NY ACAD SCI, V883, P389
[7]   A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family [J].
Georgiou, DM ;
Zidar, J ;
Korosec, M ;
Middleton, LT ;
Kyriakides, T ;
Christodoulou, K .
NEUROGENETICS, 2002, 4 (02) :93-96
[8]   THE CLINICAL-FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I AND TYPE-II [J].
HARDING, AE ;
THOMAS, PK .
BRAIN, 1980, 103 (JUN) :259-280
[9]   Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D) [J].
Ionasescu, V ;
Searby, C ;
Sheffield, VC ;
Roklina, T ;
Nishimura, D ;
Ionasescu, R .
HUMAN MOLECULAR GENETICS, 1996, 5 (09) :1373-1375
[10]   A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 [J].
Ismailov, SM ;
Fedotov, VP ;
Dadali, EL ;
Polyakov, AV ;
Van Broeckhoven, C ;
Ivanov, VI ;
De Jonghe, P ;
Timmerman, V ;
Evgrafov, OV .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (08) :646-650
123