Evidence for genetic heterogeneity in tuberous sclerosis.

Sampson, Julian R.; Yates, John R.; Pirrit, Lindsay A.; Fleury, P; Winship, Ingrid; Beighton, Peter; Connor, J. M.

doi:10.1136/jmg.26.8.511

Cited by 65 publications

(26 citation statements)

References 16 publications

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“…It has been suggested that about 66% of all TSC patients are sporadic cases [35]. Data on large series of patients by Jones et al [19] and Dabora et al [10] show that 66% might be an underestimate.…”

Section: Discussionmentioning

confidence: 97%

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

et al. 2002

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the TSC1-TSC2 mutation ratio in our group of patients differs significantly from the 1:1 ratio previously predicted on the basis of linkage studies. There is an obvious paradox between the observed frequency of TSC1 mutations in familial cases and sporadic cases. An interestingly mild phenotype, observed in one of our TSC1 mutation carriers, led to the elaboration of a model that provides a plausible explanation for this paradox. We propose the presence of a very mildly affected patient group with TSC1-related disease who are not regularly detected by clinical diagnosis.

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Section: Discussionmentioning

confidence: 97%

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

et al. 2002

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“…In contrast to the situation with Friedreich's ataxia, evidence that not all TSC is on chromosome 9 is increasingly well documented (Sampson et al, 1989). The data of Kandt et al (1989) on 9 families exclude linkage of ABO to tuberous sclerosis for a distance of 20cM.…”

Section: New Loci On Chromosomementioning

confidence: 93%

Report of the committee on the genetic constitution of chromosome 9

Povey¹,

Goudie²,

Porter³

1990

Cytogenet Genome Res

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“…Subsequent studies have provided strong evidence for locus heterogeneity (Northrup et al 1987Sampson et al 1989bSampson et al , 1992Janssen et al 1990) and led to the identification of a second locus at 16p13.3, denoted TSC2 (Kandt et al 1992). Among families large enough to permit linkage analysis, approximately half show linkage to 9q34 and half to 16p13 and there is no conclusive evidence for a third locus (Janssen et al 1994;Povey et al 1994).…”

Section: Identification and Characterisation Of The Tsc Genesmentioning

confidence: 95%

Molecular genetic advances in tuberous sclerosis

et al. 2000

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Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.

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Evidence for genetic heterogeneity in tuberous sclerosis.

Cited by 65 publications

References 16 publications

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

Report of the committee on the genetic constitution of chromosome 9

Molecular genetic advances in tuberous sclerosis

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