A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

被引：44

作者：

Ismailov, SM

Fedotov, VP

Dadali, EL

Polyakov, AV

Van Broeckhoven, C

Ivanov, VI

De Jonghe, P

Timmerman, V

Evgrafov, OV

机构：

[1] UIA VIB, Genet Mol Lab, Dept Biochem, Born Bunge Fdn, B-2610 Antwerp, Belgium

[2] Russian State Med Univ, Moscow, Russia

[3] Russian Acad Med Sci, Med Genet Res Ctr, Moscow, Russia

[4] Ctr Diagnost, Genet Counselling Dept, Voronezh, Russia

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

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2001年 / 9卷 / 08期

关键词：

Charcot-Marie-Tooth neuropathy; genome-wide search; genetic linkage;

D O I：

10.1038/sj.ejhg.5200686

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous group of inherited motor and sensory peripheral neuropathies. The axonal type of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, disease-causing mutations in the gene for neurofilament light chain (NEFL) were identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.

引用

页码：646 / 650

页数：5

共 12 条

[1] Periaxin mutations cause recessive Dejerine-Sottas neuropathy [J].

Boerkoel, CF ;

Takashima, H ;

Stankiewicz, P ;

Garcia, CA ;

Leber, SM ;

Rhee-Morris, L ;

Lupski, JR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (02) :325-333

[2] Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 [J].

Bolino, A ;

Muglia, M ;

Conforti, FL ;

LeGuern, E ;

Salih, MAM ;

Georgiou, DM ;

Christodoulou, K ;

Hausmanowa-Petrusewicz, I ;

Mandich, P ;

Schenone, A ;

Gambardella, A ;

Bono, F ;

Quattrone, A ;

Devoto, M ;

Monaco, AP .

NATURE GENETICS, 2000, 25 (01) :17-19

[3] The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy [J].

Bomont, P ;

Cavalier, L ;

Blondeau, F ;

Hamida, CB ;

Belal, S ;

Tazir, M ;

Demir, E ;

Topaloglu, H ;

Korinthenberg, R ;

Tüysüz, B ;

Landrieu, P ;

Hentati, F ;

Koenig, M .

NATURE GENETICS, 2000, 26 (03) :370-374

[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, 2000, MG CLIN NEUROSC, V18, P128

[7]

Dyck PJ, 1994, PERIPHERAL NEUROPATH, P1094

[8] A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease [J].

Guilbot, A ;

Williams, A ;

Ravisé, N ;

Verny, C ;

Brice, A ;

Sherman, DL ;

Brophy, PJ ;

LeGuern, E ;

Delague, V ;

Bareil, C ;

Mégarbané, A ;

Claustres, M .

HUMAN MOLECULAR GENETICS, 2001, 10 (04) :415-421

[9] N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom [J].

Kalaydjieva, L ;

Gresham, D ;

Gooding, R ;

Heather, L ;

Baas, F ;

de Jonge, R ;

Blechschmidt, K ;

Angelicheva, D ;

Chandler, D ;

Worsley, P ;

Rosenthal, A ;

King, RHM ;

Thomas, PK .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :47-58

[10] A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene [J].

Mersiyanova, IV ;

Perepelov, AV ;

Polyakov, AV ;

Sitnikov, VF ;

Dadali, EL ;

Oparin, RB ;

Petrin, AN ;

Evgrafov, OV .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :37-46

← 1 2 →