Prenatal diagnosis of Niemann-Pick diseases types A, B and C

被引：21

作者：

Vanier, MT

机构：

[1] Ctr Hosp Lyon Sud, Lab Fondat Gillet Merieux, F-69495 Pierre Benite, France

[2] Fac Med Lyon Sud, INSERM U189, F-69921 Oullins, France

来源：

PRENATAL DIAGNOSIS | 2002年 / 22卷 / 07期

关键词：

Niemann-Pick disease; prenatal diagnosis; sphingomyelinase; NPCl; NPC2; mutation analysis;

D O I：

10.1002/pd.368

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prenatal diagnosis of Niemann-Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann-Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance. Copyright (C) 2002 John Wiley Sons, Ltd.

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收藏

页码：630 / 632

页数：3

相关论文

共 17 条

[1] PRENATAL-DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE-C [J].

DEWINTER, JM ;

JANSE, HC ;

VANDIGGELEN, OP ;

LOS, FJ ;

BEEMER, FA ;

KLEIJER, WJ .

CLINICA CHIMICA ACTA, 1992, 208 (03) :173-181

[2]

EPSTEIN CJ, 1971, AM J HUM GENET, V23, P533

[3] Multidrug permeases and subcellular cholesterol transport [J].

Ioannou, YA .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2001, 2 (09) :657-668

[4] Niemann-Pick C1 disease:: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop [J].

Millat, G ;

Marçais, C ;

Tomasetto, C ;

Chikh, K ;

Fensom, AH ;

Harzer, K ;

Wenger, DA ;

Ohno, K ;

Vanier, MT .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1373-1385

[5] Niemann-Pick disease type C:: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group [J].

Millat, G ;

Chikh, K ;

Naureckiene, S ;

Sleat, DE ;

Fensom, AH ;

Higaki, K ;

Elleder, M ;

Lobel, P ;

Vanier, MT .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1013-1021

[6] Identification of HE1 as the second gene of Niemann-Pick C disease [J].

Naureckiene, S ;

Sleat, DE ;

Lackland, H ;

Fensom, A ;

Vanier, MT ;

Wattiaux, R ;

Jadot, M ;

Lobel, P .

SCIENCE, 2000, 290 (5500) :2298-+

[7]

PETERSON MC, 2001, METABOLIC MOL BASES, P3611

[8]

Schuchman EH., 2001, The Metabolic and Molecular Bases of Inherited Disease, V3, P3589

[9] Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1 [J].

Sun, XF ;

Marks, DL ;

Park, WD ;

Wheatley, CL ;

Puri, V ;

O'Brien, JF ;

Kraft, DL ;

Lundquist, PA ;

Patterson, MC ;

Pagano, RE ;

Snow, K .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1361-1372

[10]

Tsukamoto H, 2001, PRENATAL DIAG, V21, P55, DOI 10.1002/1097-0223(200101)21:1<55::AID-PD23>3.0.CO