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

W. L. Greer; D. C. Riddell; T. L. Gillan; G. S. Girouard; S. M. Sparrow; D. M. Byers; M. J. Dobson; P. E. Neumann

doi:10.1086/301931

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

W. L. Greer, D. C. Riddell, T. L. Gillan, G. S. Girouard, S. M. Sparrow, D. M. Byers, M. J. Dobson, P. E. Neumann

Medicine

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

91 Citas (Scopus)

Resumen

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.

Idioma original	English
Páginas (desde-hasta)	52-54
Número de páginas	3
Publicación	American Journal of Human Genetics
Volumen	63
N.º	1
DOI	https://doi.org/10.1086/301931
Estado	Published - jul. 1998

Nota bibliográfica

Funding Information:
We thank the NPD family members who contributed blood samples, the Yarmouth County Hospital laboratory staff for drawing the blood samples and shipping them to our laboratory, and Karen Cleveland for excellent secretarial assistance. This work has been supported by the Ara Parseghian Medical Research Foundation, the National Niemann-Pick Foundation, and the IWK Grace Health Centre for Children, Women and Families, of Halifax, Nova Scotia. P.E.N. is a Medical Research Council of Canada Scholar.

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Acceder al documento

10.1086/301931

Otros archivos y enlaces

Citar esto

@article{a6fab2f00a824bbc850adb8fff9a75ee,

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

abstract = "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.",

author = "Greer, {W. L.} and Riddell, {D. C.} and Gillan, {T. L.} and Girouard, {G. S.} and Sparrow, {S. M.} and Byers, {D. M.} and Dobson, {M. J.} and Neumann, {P. E.}",

note = "Funding Information: We thank the NPD family members who contributed blood samples, the Yarmouth County Hospital laboratory staff for drawing the blood samples and shipping them to our laboratory, and Karen Cleveland for excellent secretarial assistance. This work has been supported by the Ara Parseghian Medical Research Foundation, the National Niemann-Pick Foundation, and the IWK Grace Health Centre for Children, Women and Families, of Halifax, Nova Scotia. P.E.N. is a Medical Research Council of Canada Scholar. ",

year = "1998",

month = jul,

doi = "10.1086/301931",

language = "English",

volume = "63",

pages = "52--54",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

TY - JOUR

T1 - The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1

AU - Greer, W. L.

AU - Riddell, D. C.

AU - Gillan, T. L.

AU - Girouard, G. S.

AU - Sparrow, S. M.

AU - Byers, D. M.

AU - Dobson, M. J.

AU - Neumann, P. E.

N1 - Funding Information: We thank the NPD family members who contributed blood samples, the Yarmouth County Hospital laboratory staff for drawing the blood samples and shipping them to our laboratory, and Karen Cleveland for excellent secretarial assistance. This work has been supported by the Ara Parseghian Medical Research Foundation, the National Niemann-Pick Foundation, and the IWK Grace Health Centre for Children, Women and Families, of Halifax, Nova Scotia. P.E.N. is a Medical Research Council of Canada Scholar.

PY - 1998/7

Y1 - 1998/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0032231442&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032231442&partnerID=8YFLogxK

U2 - 10.1086/301931

DO - 10.1086/301931

M3 - Article

C2 - 9634529

AN - SCOPUS:0032231442

SN - 0002-9297

VL - 63

SP - 52

EP - 54

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -