Evidence for genetic heterogeneity in tuberous sclerosis : one locus on chromosome 9 and at least one locus elsewhere

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 multigenera...

Full description

Saved in:
Bibliographic Details
Published in:American journal of human genetics 1992-10, Vol.51 (4), p.709-720
Main Authors: NORTHRUP, H, KWIATKOWSKI, D. J, ROACH, E. S, DOBYNS, W. B, LEWIS, R. A, HERMAN, G. E, RODRIGUEZ, E. JR, DAIGER, S. P, BLANTON, S. H
Format: Article
Language:English
Subjects:
Alleles
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
Cell Line
chromosome 9
Chromosome Mapping
CHROMOSOMES
Chromosomes, Human, Pair 9
DISEASES
Female
Fibroma - genetics
Fibroma - pathology
GENE MUTATIONS
Genes, Dominant
Genetic Linkage
GENETIC MAPPING
Genetic Markers
heterogeneity
HUMAN CHROMOSOME 9
HUMAN CHROMOSOMES
Humans
loci
Male
man
MAPPING
Medical sciences
MUTATIONS 550400 > Genetics
NERVOUS SYSTEM DISEASES
Neurology
Pedigree
Phenotype
Polymorphism, Genetic
Probability
tuberous sclerosis
Tuberous Sclerosis - genetics
Tuberous Sclerosis - pathology
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0002-9297
1537-6605