Evidence for genetic heterogeneity in tuberous sclerosis

One locus on chromosome 9 and at least one locus elsewhere

Hope Northrup, David J. Kwiatkowski, E. Steve Roach, William B. Dobyns, Richard Alan Lewis, Gail E. Herman, Estanislado Rodriguez, Stephen P. Daiger, Susan H Blanton

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. We studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. Our results confirm the previous reports that the genetic locus in one-third to one-half of families maps to chromosome 9. Comparison of clinical findings in the chromosome 9-linked families with those in the chromosome 9-unlinked families reveals only a higher incidence of ungual fibromata in the chromosome 9-linked families.

Original languageEnglish
Pages (from-to)709-720
Number of pages12
JournalAmerican Journal of Human Genetics
Volume51
Issue number4
StatePublished - Oct 1 1992
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 9
Tuberous Sclerosis
Genetic Heterogeneity
Genetic Loci
Fibroma
Nails
Chromosomes
Phenotype
Incidence

ASJC Scopus subject areas

  • Genetics

Cite this

Northrup, H., Kwiatkowski, D. J., Roach, E. S., Dobyns, W. B., Lewis, R. A., Herman, G. E., ... Blanton, S. H. (1992). Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere. American Journal of Human Genetics, 51(4), 709-720.

Evidence for genetic heterogeneity in tuberous sclerosis : One locus on chromosome 9 and at least one locus elsewhere. / Northrup, Hope; Kwiatkowski, David J.; Roach, E. Steve; Dobyns, William B.; Lewis, Richard Alan; Herman, Gail E.; Rodriguez, Estanislado; Daiger, Stephen P.; Blanton, Susan H.

In: American Journal of Human Genetics, Vol. 51, No. 4, 01.10.1992, p. 709-720.

Research output: Contribution to journalArticle

Northrup, H, Kwiatkowski, DJ, Roach, ES, Dobyns, WB, Lewis, RA, Herman, GE, Rodriguez, E, Daiger, SP & Blanton, SH 1992, 'Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere', American Journal of Human Genetics, vol. 51, no. 4, pp. 709-720.
Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE et al. Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere. American Journal of Human Genetics. 1992 Oct 1;51(4):709-720.
Northrup, Hope ; Kwiatkowski, David J. ; Roach, E. Steve ; Dobyns, William B. ; Lewis, Richard Alan ; Herman, Gail E. ; Rodriguez, Estanislado ; Daiger, Stephen P. ; Blanton, Susan H. / Evidence for genetic heterogeneity in tuberous sclerosis : One locus on chromosome 9 and at least one locus elsewhere. In: American Journal of Human Genetics. 1992 ; Vol. 51, No. 4. pp. 709-720.
@article{84c817b5461d4060bd496e9436268c4b,
title = "Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere",
abstract = "Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. We studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. Our results confirm the previous reports that the genetic locus in one-third to one-half of families maps to chromosome 9. Comparison of clinical findings in the chromosome 9-linked families with those in the chromosome 9-unlinked families reveals only a higher incidence of ungual fibromata in the chromosome 9-linked families.",
author = "Hope Northrup and Kwiatkowski, {David J.} and Roach, {E. Steve} and Dobyns, {William B.} and Lewis, {Richard Alan} and Herman, {Gail E.} and Estanislado Rodriguez and Daiger, {Stephen P.} and Blanton, {Susan H}",
year = "1992",
month = "10",
day = "1",
language = "English",
volume = "51",
pages = "709--720",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

}

TY - JOUR

T1 - Evidence for genetic heterogeneity in tuberous sclerosis

T2 - One locus on chromosome 9 and at least one locus elsewhere

AU - Northrup, Hope

AU - Kwiatkowski, David J.

AU - Roach, E. Steve

AU - Dobyns, William B.

AU - Lewis, Richard Alan

AU - Herman, Gail E.

AU - Rodriguez, Estanislado

AU - Daiger, Stephen P.

AU - Blanton, Susan H

PY - 1992/10/1

Y1 - 1992/10/1

N2 - Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. We studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. Our results confirm the previous reports that the genetic locus in one-third to one-half of families maps to chromosome 9. Comparison of clinical findings in the chromosome 9-linked families with those in the chromosome 9-unlinked families reveals only a higher incidence of ungual fibromata in the chromosome 9-linked families.

AB - Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. We studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. Our results confirm the previous reports that the genetic locus in one-third to one-half of families maps to chromosome 9. Comparison of clinical findings in the chromosome 9-linked families with those in the chromosome 9-unlinked families reveals only a higher incidence of ungual fibromata in the chromosome 9-linked families.

UR - http://www.scopus.com/inward/record.url?scp=0026668709&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026668709&partnerID=8YFLogxK

M3 - Article

VL - 51

SP - 709

EP - 720

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -