Year: 1991
Type: article
Study design: Observational Study
Abstract: Tuberous sclerosis is a disorder characterized by hamartias and hamartomas expressed in tissues and organs throughout the body.This disorder displays great variation in expression and severity both within and between families.'Results of studies indicate that as many as 68% of cases of tuberous sclerosis (TSC) may represent new mutations.2Linkage studies in tuberous sclerosis indicate that a TSC locus maps to chromosome 9q34, but that genetic heterogeneity is likely and that a second TSC locus, TSC2, maps to chromosome 1 Iq.3-5The study presented here describes the results of analyses designed to obtain further information on the position of the chromosome 11 TSC locus in families evaluated by US.^In addition, we will discuss reported similarities in certain pathologic manifestations in TSC and ataxia telangiectasia.These similarities are of interest in light of the mapping of ataxia telangiectasia to the same region as the TSC IOCUS.~We will discuss disorders in which interaction between two separate distant loci was required to produce the phenotype.*v9We will consider a hypothesis to explain the lack of penetrance in certain cases of TSC and for the variable manifestations in TSC, and will discuss experimental methodologies to test this hypothesis.Finally, we will discuss plans to further refine the mapping of the TSC locus and elucidate the nature of the underlying genetic defect.
Authors: MOYRA SMITH, K. YOSHIYAMA, C. WAGNER, P. FLODMAN, B. SMITH
Institution: University of California, Irvine
Language: English
Subfield: Physiology (medical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2167221676