Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

被引：9

作者：

Goizet, C

Coupry, I

Rooryck, C

Taine, L

Dormoy, V

Lacombe, D

Arveiler, B

机构：

[1] Univ Bordeaux 2, Lab Genet Humaine Dev & Canc, F-33076 Bordeaux, France

[2] Hop Pellegrin Enfants, Serv Genet Med, Bordeaux, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2004年 / 12卷 / 03期

关键词：

leukodystrophy; microdeletion; 11q14.3; physical mapping;

D O I：

10.1038/sj.ejhg.5201128

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：

Leukodystrophies represent a heterogeneous group of rare hereditary diseases affecting the central nervous system. The underlying molecular defect remains unknown in almost 50% of cases. We previously assigned a new locus for leukodystrophy of unknown cause to chromosome 11q14.3 by identifying a de novo microdeletion in a sporadic case. We now report the precise molecular characterization of this microdeletion. Physical mapping of the region of interest allowed us to identify and analyze candidate gene(s) possibly implicated in leukodystrophy.

引用

收藏

页码：245 / 250

页数：6

相关论文

共 9 条

[1] Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment [J].

Berger, J ;

Moser, HW ;

Forss-Petter, S .

CURRENT OPINION IN NEUROLOGY, 2001, 14 (03) :305-312

[2] Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion [J].

Coupry, I ;

Taine, L ;

Goizet, C ;

Soriano, C ;

Mortemousque, B ;

Arveiler, B ;

Lacombe, D .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (01) :35-38

[3] Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients [J].

Hart, PS ;

Zhang, Y ;

Firatli, E ;

Uygur, C ;

Lotfazar, M ;

Michalec, MD ;

Marks, JJ ;

Lu, X ;

Coates, BJ ;

Seow, WK ;

MarshaIl, R ;

Williams, D ;

Reed, JB ;

Wright, JT ;

Hart, TC .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (12) :927-932

[4]

Jäger D, 2000, CANCER RES, V60, P3584

[5] Position effect in human genetic disease [J].

Kleinjan, DJ ;

van Heyningen, V .

HUMAN MOLECULAR GENETICS, 1998, 7 (10) :1611-1618

[6] Functional metabotropic glutamate receptors are expressed in oligodendrocyte progenitor cells [J].

Luyt, K ;

Varadi, A ;

Molnar, E .

JOURNAL OF NEUROCHEMISTRY, 2003, 84 (06) :1452-1464

[7] An update on the leukodsytrophies [J].

Schiffmann, R ;

Boespflüg-Tanguy, O .

CURRENT OPINION IN NEUROLOGY, 2001, 14 (06) :789-794

[8] Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis [J].

Toomes, C ;

James, J ;

Wood, AJ ;

Wu, CL ;

McCormick, D ;

Lench, N ;

Hewitt, C ;

Moynihan, L ;

Roberts, E ;

Woods, CG ;

Markham, A ;

Wong, M ;

Widmer, R ;

Ghaffar, KA ;

Pemberton, M ;

Hussein, IR ;

Temtamy, SA ;

Davies, R ;

Read, AP ;

Sloan, P ;

Dixon, MJ ;

Thakker, NS .

NATURE GENETICS, 1999, 23 (04) :421-424

[9] The pericentromeric region of human chromosome 11: Evidence for a chromosome-specific duplication [J].

Zhang, J ;

Qin, S ;

Sait, SNJ ;

Haley, LL ;

Henry, WM ;

Higgins, MJ ;

Nowak, NJ ;

Shows, TB ;

Gerhard, DS .

CYTOGENETICS AND CELL GENETICS, 2001, 94 (3-4) :137-141