Genetic heterogeneity in tuberous sclerosis

L. A. Janssen; L. A. Sandkuyl; E. C. Merkens; J. A. Maat-Kievit; J. R. Sampson; P. Fleury; R. C. Hennekam; G. C. Grosveld; D. Lindhout; D. J. Halley

doi:10.1016/0888-7543(90)90277-2

Genetic heterogeneity in tuberous sclerosis

L. A. Janssen
, L. A. Sandkuyl
, E. C. Merkens
, J. A. Maat-Kievit
, J. R. Sampson
, P. Fleury
, R. C. Hennekam
, G. C. Grosveld
, D. Lindhout
, D. J. Halley

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by widespread hamartosis. Preliminary evidence of linkage between the TSC locus and markers on chromosome 9q34 was established, but subsequently disputed. More recently, a putative TSC locus on chromosome 11 has been suggested and genetic heterogeneity seems likely. Here we describe an approach combining multipoint linkage analysis and heterogeneity tests that has enabled us to obtain significant evidence for locus heterogeneity after studying a relatively small number of families. Our results support a model with two different loci independently causing the disease. One locus (TSC1) maps in the vicinity of the Abelson oncogene at 9q34 and a second locus (TSC2) maps in the region of the anonymous DNA marker Lam L7 and the dopamine D2 receptor gene at 11q23

Original language	English
Pages (from-to)	237-242
Journal	Genomics
Volume	8
Issue number	2
DOIs	https://doi.org/10.1016/0888-7543(90)90277-2
Publication status	Published - 1990

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title = "Genetic heterogeneity in tuberous sclerosis",

abstract = "Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by widespread hamartosis. Preliminary evidence of linkage between the TSC locus and markers on chromosome 9q34 was established, but subsequently disputed. More recently, a putative TSC locus on chromosome 11 has been suggested and genetic heterogeneity seems likely. Here we describe an approach combining multipoint linkage analysis and heterogeneity tests that has enabled us to obtain significant evidence for locus heterogeneity after studying a relatively small number of families. Our results support a model with two different loci independently causing the disease. One locus (TSC1) maps in the vicinity of the Abelson oncogene at 9q34 and a second locus (TSC2) maps in the region of the anonymous DNA marker Lam L7 and the dopamine D2 receptor gene at 11q23",

author = "Janssen, \{L. A.\} and Sandkuyl, \{L. A.\} and Merkens, \{E. C.\} and Maat-Kievit, \{J. A.\} and Sampson, \{J. R.\} and P. Fleury and Hennekam, \{R. C.\} and Grosveld, \{G. C.\} and D. Lindhout and Halley, \{D. J.\}",

year = "1990",

doi = "10.1016/0888-7543(90)90277-2",

language = "English",

volume = "8",

pages = "237--242",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

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TY - JOUR

T1 - Genetic heterogeneity in tuberous sclerosis

AU - Janssen, L. A.

AU - Sandkuyl, L. A.

AU - Merkens, E. C.

AU - Maat-Kievit, J. A.

AU - Sampson, J. R.

AU - Fleury, P.

AU - Hennekam, R. C.

AU - Grosveld, G. C.

AU - Lindhout, D.

AU - Halley, D. J.

PY - 1990

Y1 - 1990

N2 - Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by widespread hamartosis. Preliminary evidence of linkage between the TSC locus and markers on chromosome 9q34 was established, but subsequently disputed. More recently, a putative TSC locus on chromosome 11 has been suggested and genetic heterogeneity seems likely. Here we describe an approach combining multipoint linkage analysis and heterogeneity tests that has enabled us to obtain significant evidence for locus heterogeneity after studying a relatively small number of families. Our results support a model with two different loci independently causing the disease. One locus (TSC1) maps in the vicinity of the Abelson oncogene at 9q34 and a second locus (TSC2) maps in the region of the anonymous DNA marker Lam L7 and the dopamine D2 receptor gene at 11q23

AB - Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by widespread hamartosis. Preliminary evidence of linkage between the TSC locus and markers on chromosome 9q34 was established, but subsequently disputed. More recently, a putative TSC locus on chromosome 11 has been suggested and genetic heterogeneity seems likely. Here we describe an approach combining multipoint linkage analysis and heterogeneity tests that has enabled us to obtain significant evidence for locus heterogeneity after studying a relatively small number of families. Our results support a model with two different loci independently causing the disease. One locus (TSC1) maps in the vicinity of the Abelson oncogene at 9q34 and a second locus (TSC2) maps in the region of the anonymous DNA marker Lam L7 and the dopamine D2 receptor gene at 11q23

U2 - 10.1016/0888-7543(90)90277-2

DO - 10.1016/0888-7543(90)90277-2

M3 - Article

C2 - 1979047

SN - 0888-7543

VL - 8

SP - 237

EP - 242

JO - Genomics

JF - Genomics

IS - 2

ER -

Genetic heterogeneity in tuberous sclerosis

Abstract

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