Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

被引：46

作者：

Jordanova, A

Thomas, FP

Guergueltcheva, V

Tourney, I

Gondim, FAA

Ishpekova, B

De Vriendt, E

Jacobs, A

Litvinenko, I

Ivanova, N

Buzhov, B

De Jonghe, P

Kremensky, I

Timmerman, V

机构：

[1] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[2] Flanders Interuniv Inst Biotechnol, Dept Mol Genet, Antwerp, Belgium

[3] Med Univ Sofia, Lab Mol Pathol, Sofia, Bulgaria

[4] Med Univ Sofia, Dept Neurol, Sofia, Bulgaria

[5] Med Univ Sofia, Dept Pediat, Sofia, Bulgaria

[6] St Louis Univ, Dept Neurol, St Louis, MO 63103 USA

[7] St Louis VA Med Ctr, Inst Mol Virol, Dept Mol Microbiol & Immunol, St Louis, MO USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 06期

关键词：

D O I：

10.1086/379792

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and DIS2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.

引用

页码：1423 / 1430

页数：8

共 46 条

[1] LAPTM5: A novel lysosomal-associated multispanning membrane protein preferentially expressed in hematopoietic cells [J].

Adra, CN ;

Zhu, SC ;

Ko, JL ;

Guillemot, JC ;

Cuervo, AM ;

Kobayashi, H ;

Horiuchi, T ;

Lelias, JM ;

Rowley, JD ;

Lim, B .

GENOMICS, 1996, 35 (02) :328-337

[2] 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

[3] Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 [J].

Baxter, RV ;

Ben Othmane, K ;

Rochelle, JM ;

Stajich, JE ;

Hulette, C ;

Dew-Knight, S ;

Hentati, F ;

Ben Hamida, M ;

Bel, S ;

Stenger, JE ;

Gilbert, JR ;

Pericak-Vance, MA ;

Vance, JM .

NATURE GENETICS, 2002, 30 (01) :21-22

[4]

BENOTHMANE K, 1993, GENOMICS, V17, P370

[5] CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE [J].

BERGOFFEN, J ;

SCHERER, SS ;

WANG, S ;

SCOTT, MO ;

BONE, LJ ;

PAUL, DL ;

CHEN, K ;

LENSCH, MW ;

CHANCE, PF ;

FISCHBECK, KH .

SCIENCE, 1993, 262 (5142) :2039-2042

[6] X-linked Charcot-Marie-Tooth disease with connexin 32 mutations -: Clinical and electrophysiologic study [J].

Birouk, N ;

LeGuern, E ;

Maisonobe, T ;

Rouger, H ;

Gouider, R ;

Tardieu, S ;

Gugenheim, M ;

Routon, MC ;

Léger, JM ;

Agid, Y ;

Brice, A ;

Bouche, P .

NEUROLOGY, 1998, 50 (04) :1074-1082

[7] CMT4A:: Identification of a Hispanic GDAP1 founder mutation [J].

Boerkoel, CF ;

Takashima, H ;

Nakagawa, M ;

Izumo, S ;

Armstrong, D ;

Butler, I ;

Mancias, P ;

Papasozomenos, SCH ;

Stern, LZ ;

Lupski, JR .

ANNALS OF NEUROLOGY, 2003, 53 (03) :400-405

[8]

Carey DJ, 1996, PERSPECT DEV NEUROBI, V3, P331

[9]

COTTINGHAM RW, 1993, AM J HUM GENET, V53, P252

[10] The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease [J].

Cuesta, A ;

Pedrola, L ;

Sevilla, T ;

García-Planells, J ;

Chumillas, MJ ;

Mayordomo, F ;

LeGuern, E ;

Marín, I ;

Vílchez, JJ ;

Palau, F .

NATURE GENETICS, 2002, 30 (01) :22-25

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