The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1

被引：76

作者：

Greer, WL

Riddell, DC

Gillan, TL

Girouard, GS

Sparrow, SM

Byers, DM

Dobson, MJ

Neumann, PE

机构：

[1] Dalhousie Univ, Fac Med, Dept Pathol, Div Mol Pathol & Mol Genet, Halifax, NS, Canada

[2] Dalhousie Univ, Fac Med, Dept Biochem, Halifax, NS, Canada

[3] Dalhousie Univ, Fac Med, Dept Paediat, Halifax, NS, Canada

[4] Dalhousie Univ, Fac Med, Dept Anat & Neurobiol, Halifax, NS, Canada

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 63卷 / 01期

关键词：

D O I：

10.1086/301931

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis of this large extended kindred, defined the critical gene region to a 13-cM chromosome segment between D18S40 and D18S66. A recently isolated gene from this region, NPC1, is mutated in the majority of patients with Niemann-Pick type C disease. We have identified a point mutation within this gene (G3097-->T; Gly992-->Trp) that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1.

引用

页码：52 / 54

页数：3

共 14 条

[1] DEFECTIVE ACTIVITY OF ACYL-COA - CHOLESTEROL O-ACYLTRANSFERASE IN NIEMANN-PICK TYPE-C AND TYPE-D FIBROBLASTS [J].

BYERS, DM ;

RASTOGI, SR ;

COOK, HW ;

PALMER, FBS ;

SPENCE, MW .

BIOCHEMICAL JOURNAL, 1989, 262 (03) :713-719

[2] LINKAGE OF NIEMANN-PICK DISEASE TYPE-C TO HUMAN CHROMOSOME-18 [J].

CARSTEA, ED ;

POLYMEROPOULOS, MH ;

PARKER, CC ;

DETERAWADLEIGH, SD ;

ONEILL, RR ;

PATTERSON, MC ;

GOLDIN, E ;

XIAO, H ;

STRAUB, RE ;

VANIER, MT ;

BRADY, RO ;

PENTCHEV, PG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (05) :2002-2004

[3] Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [J].

Carstea, ED ;

Morris, JA ;

Coleman, KG ;

Loftus, SK ;

Zhang, D ;

Cummings, C ;

Gu, J ;

Rosenfeld, MA ;

Pavan, WJ ;

Krizman, DB ;

Nagle, J ;

Polymeropoulos, MH ;

Sturley, SL ;

Ioannou, YA ;

Higgins, ME ;

Comly, M ;

Cooney, A ;

Brown, A ;

Kaneski, CR ;

BlanchetteMackie, EJ ;

Dwyer, NK ;

Neufeld, EB ;

Chang, TY ;

Liscum, L ;

Strauss, JF ;

Ohno, K ;

Zeigler, M ;

Carmi, R ;

Sokol, J ;

Markie, D ;

ONeill, RR ;

vanDiggelen, OP ;

Elleder, M ;

Patterson, MC ;

Brady, RO ;

Vanier, MT ;

Pentchev, PG ;

Tagle, DA .

SCIENCE, 1997, 277 (5323) :228-231

[4] Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C [J].

Greer, WL ;

Riddell, DC ;

Byers, DM ;

Welch, JP ;

Girouard, GS ;

Sparrow, SM ;

Gillan, TL ;

Neumann, PE .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) :139-142

[5] Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene [J].

Loftus, SK ;

Morris, JA ;

Carstea, ED ;

Gu, JZ ;

Cummings, C ;

Brown, A ;

Ellison, J ;

Ohno, K ;

Rosenfeld, MA ;

Tagle, DA ;

Pentchev, PG ;

Pavan, WJ .

SCIENCE, 1997, 277 (5323) :232-235

[6]

MAURER J, 1990, DIS MARKERS, V8, P211

[7] A DEFECT IN CHOLESTEROL ESTERIFICATION IN NIEMANN-PICK DISEASE (TYPE-C) PATIENTS [J].

PENTCHEV, PG ;

COMLY, ME ;

KRUTH, HS ;

VANIER, MT ;

WENGER, DA ;

PATEL, S ;

BRADY, RO .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (23) :8247-8251

[8]

PENTCHEV PG, 1986, J BIOL CHEM, V261, P6775

[9]

PENTCHEV PG, 1995, METABOLIC MOL BASES, P2625

[10] REGULATION OF LOW-DENSITY-LIPOPROTEIN RECEPTOR AND 3-HYDROXY-3-METHYL-GLUTARYL-COA REDUCTASE ACTIVITIES ARE DIFFERENTIALLY AFFECTED IN NIEMANN-PICK TYPE-C AND TYPE-D FIBROBLASTS [J].

SIDHU, HS ;

RASTOGI, SAR ;

BYERS, DM ;

GUERNSEY, DL ;

COOK, HW ;

PALMER, FBSC ;

SPENCE, MW .

BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE, 1993, 71 (9-10) :467-474

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