Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands

被引：7

作者：

Taschner, PEM

Franken, PF

van Berkel, L

Breuning, MH

机构：

[1] Leiden Univ, Med Ctr, Sylvius Labs, Dept Genet,Sect Human Genet, NL-2300 RA Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RA Leiden, Netherlands

来源：

MOLECULAR GENETICS AND METABOLISM | 1999年 / 66卷 / 04期

关键词：

neuronal ceroid lipofuscinosis; Batten disease; NCL; CLN1; CLN2; CLN3; CLN5; CLN6; diagnosis;

D O I：

10.1006/mgme.1999.2810

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An overview of patients in the Netherlands who are known to us with neuronal ceroid lipofuscinosis (NCL) is presented. Several CLN genes involved in NCL have been isolated or mapped. We have analyzed families with different types of NCL with polymorphic markers linked to CLN loci to investigate the genetic heterogeneity of NCL in the Netherlands. Haplotype analysis suggests that in addition to the CLN2 and CLN6 genes another gene is involved in at least one family with late infantile NCL in the Netherlands. The CLN2 and CLN6 loci have also been excluded in a family with protracted juvenile NCL. (C) 1999 Academic Press.

引用

页码：339 / 343

页数：5

共 14 条

[1] 2 STEP PROCEDURE FOR EARLY DIAGNOSIS OF POLYCYSTIC KIDNEY-DISEASE WITH POLYMORPHIC DNA MARKERS ON BOTH SIDES OF THE GENE [J].

BREUNING, MH ;

SNIJDEWINT, FGM ;

DAUWERSE, JG ;

SARIS, JJ ;

BAKKER, E ;

PEARSON, PL ;

VANOMMEN, GJB .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (10) :614-617

[2] Molecular genetics of palmitoyl protein thioesterase deficiency in the US [J].

Das, AK ;

Becerra, CHR ;

Yi, W ;

Lu, JY ;

Siakotos, AN ;

Wisniewski, KE ;

Hofmann, SL .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (02) :361-370

[3] LATE-ONSET JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (GROD) [J].

HOFMAN, IL ;

TASCHNER, PEM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (02) :165-167

[4] ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3 [J].

LERNER, TJ ;

BOUSTANY, RMN ;

ANDERSON, JW ;

DARIGO, KL ;

SCHLUMPF, K ;

BUCKLER, AJ ;

GUSELLA, JF ;

HAINES, JL ;

KREMMIDIOTIS, G ;

LENSINK, IL ;

SUTHERLAND, GR ;

CALLEN, DF ;

TASCHNER, PEM ;

DEVOS, N ;

VANOMMEN, GJB ;

BREUNING, MH ;

DOGGETT, NA ;

MEINCKE, LJ ;

LIU, ZY ;

GOODWIN, LA ;

TESMER, JG ;

MITCHISON, HM ;

ORAWE, AM ;

MUNROE, PB ;

JARVELA, IE ;

GARDINER, RM ;

MOLE, SE .

CELL, 1995, 82 (06) :949-957

[5] Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [J].

Mitchison, HM ;

Hofmann, SL ;

Becerra, CHR ;

Munroe, PB ;

Lake, BD ;

Crow, YJ ;

Stephenson, JBP ;

Williams, RE ;

Hofman, IL ;

Taschner, PEM ;

Martin, JJ ;

Philippart, M ;

Andermann, E ;

Andermann, F ;

Mole, SE ;

Gardiner, RM ;

O'Rawe, AM .

HUMAN MOLECULAR GENETICS, 1998, 7 (02) :291-297

[6] Spectrum of mutations in the Batten disease gene, CLN3 [J].

Munroe, PB ;

Mitchison, HM ;

ORawe, AM ;

Anderson, JW ;

Boustany, RM ;

Lerner, TJ ;

Taschner, PEM ;

deVos, N ;

Breuning, MH ;

Gardiner, RM ;

Mole, SE .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (02) :310-316

[7] CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis [J].

Savukoski, M ;

Klockars, T ;

Holmberg, V ;

Santavuori, P ;

Lander, ES ;

Peltonen, L .

NATURE GENETICS, 1998, 19 (03) :286-288

[8] Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 [J].

Sharp, JD ;

Wheeler, RB ;

Lake, BD ;

Savukoski, M ;

Jarvela, IE ;

Peltonen, L ;

Gardiner, RM ;

Williams, RE .

HUMAN MOLECULAR GENETICS, 1997, 6 (04) :591-595

[9] Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis [J].

Sleat, DE ;

Donnelly, RJ ;

Lackland, H ;

Liu, CG ;

Sohar, I ;

Pullarkat, RK ;

Lobel, P .

SCIENCE, 1997, 277 (5333) :1802-1805

[10] CARRIER DETECTION OF BATTEN-DISEASE (JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS) [J].

TASCHNER, PEM ;

DEVOS, N ;

POST, JG ;

MEIJERSHEIJBOER, EJ ;

HOFMAN, I ;

LOONEN, MCB ;

PINCKERS, AJLG ;

BLEEKERWAGEMAKERS, EM ;

GARDINER, RM ;

BREUNING, MH .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (02) :333-337

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