J Med Genet. 1979 Feb;16(1):32-5.

Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.

Abstract

A unique pedigree is presented which shows tuberous sclerosis in three generations of a family, in which two heterozygotes for the mutant gene were found to be clinically asymptomatic. A genetic model is proposed to explain these findings based upon the segregation of a second unlinked autosomal dominant gene modifying the expression of the gene for tuberous sclerosis.

PMID:: 469883; [PubMed - indexed for MEDLINE]
PMCID:: PMC1012777

Free PMC Article

Publication Types, MeSH Terms

Publication Types

Research Support, U.S. Gov't, P.H.S.

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Tuberous Sclerosis - MedlinePlus Health Information

Supplemental Content

Save items

Related citations in PubMed

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. [Nat Genet. 1992]
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, Dumars K, Roach ES, Steingold S, Wall S. Nat Genet. 1992 Sep; 2(1):37-41.
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. [Am J Hum Genet. 1991]
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA. Am J Hum Genet. 1991 Oct; 49(4):764-72.
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. [Am J Hum Genet. 1992]
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E Jr, Daiger SP, Blanton SH. Am J Hum Genet. 1992 Oct; 51(4):709-20.
Review Genetic influences in autism. [Psychiatr Clin North Am. 1991]
Review Genetic influences in autism.
Smalley SL. Psychiatr Clin North Am. 1991 Mar; 14(1):125-39.
Review Tuberous sclerosis. [Arch Dermatol. 1994]
Review Tuberous sclerosis.
Kwiatkowski DJ, Short MP. Arch Dermatol. 1994 Mar; 130(3):348-54.

See reviews... See all...

Cited by 4 PubMed Central articles

Tuberous Sclerosis. [J Med Genet. 1980]
Tuberous Sclerosis.
Pagon RA. J Med Genet. 1980 Aug; 17(4):325-6.
Genetic aspects of tuberous sclerosis in the west of Scotland. [J Med Genet. 1989]
Genetic aspects of tuberous sclerosis in the west of Scotland.
Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM. J Med Genet. 1989 Jan; 26(1):28-31.
Pulmonary manifestations of tuberous sclerosis in first degree relatives. [Thorax. 1989]
Pulmonary manifestations of tuberous sclerosis in first degree relatives.
Slingerland JM, Grossman RF, Chamberlain D, Tremblay CE. Thorax. 1989 Mar; 44(3):212-4.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Tuberous sclerosis: possible modification of phenotypic expression by an unlinke...
Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.
J Med Genet. 1979 Feb ;16(1):32-5.

PubMed
School phobia: diagnostic considerations in the light of imipramine effects.
School phobia: diagnostic considerations in the light of imipramine effects.
J Nerv Ment Dis. 1973 Mar ;156(3):199-215.

PubMed
Cardiovascular responses to electrical stimulation of the amygdala in the rat.
Cardiovascular responses to electrical stimulation of the amygdala in the rat.
Exp Neurol. 1973 Apr ;39(1):166-80.

PubMed
Calcium-dependent potentials in the mammalian sympathetic neurone.
Calcium-dependent potentials in the mammalian sympathetic neurone.
J Physiol. 1979 May ;290(2):507-23.

PubMed
Desmosterol levels in human foetal brain--a reassessment.
Desmosterol levels in human foetal brain--a reassessment.
J Neurochem. 1973 Apr ;20(4):1293-4.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: