Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Nellist, Mark; Brook-Carter, P T; Connor, J. M.; Kwiatkowski, D. J.; Johnson, Peter; Sampson, Julian R.

doi:10.1136/jmg.30.3.224

Cited by 40 publications

(11 citation statements)

References 15 publications

(1 reference statement)

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“…Initial definition of the 1.5-Mb TSC1 candidate region on chromosome 9q34 was achieved by identification of key meiotic recombination events in large TSC1 families (Haines et al 1991;Nellist et al 1993). Many microsatellite markers from this region were then identified and a cosmid, P1 artificial chromosome and bacterial artificial chromosome contig assembled Povey et al 1994;Van Slegtenhorst et al 1995;Au et al 1996;Hornigold et al 1997).…”

Section: Mapping and Identification Of Tsc1mentioning

confidence: 99%

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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Section: Mapping and Identification Of Tsc1mentioning

confidence: 99%

Molecular genetic advances in tuberous sclerosis

et al. 2000

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“…Renal cysts are not only seen in patients with TSC2 but also in those with TSC1 mutations [35,36]. Jones et al [6] found unilateral solitary cysts in 3 (of 22) adult patients with TSC1 mutations.…”

Section: Discussionmentioning

confidence: 99%

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

Laaß

Spiegel

Jauch

et al. 2004

Pediatric Nephrology

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Tuberous sclerosis (TSC) is an autosomal dominantly inherited multisystemic disease characterized by the development of hamartomas predominantly in brain and kidneys. The TSC2 gene for tuberous sclerosis is localized on chromosome 16p13.3 immediately adjacent to PKD1, the gene for autosomal dominant polycystic kidney disease (ADPKD). A TSC2-PKD1 contiguous gene syndrome caused by chromosomal microdeletions disrupting both the TSC2 and PKD1 genes has been identified in patients with TSC and early-onset severe ADPKD. We report a 3-month-old Caucasian girl of non-consanguineous parents with TSC and early manifestation of ADPKD. She presented with right-sided focal seizures, two small hypopigmented areas on the left flank, and elevated blood pressure requiring antihypertensive treatment. Brain magnetic resonance imaging revealed typical signs of tuberous sclerosis and abdominal ultrasonography showed bilaterally enlarged kidneys with multiple cysts resembling those seen in ADPKD. There was no family history of renal disease or of tuberous sclerosis. Findings were highly suspicious of TSC2-PKD1 contiguous gene syndrome. Using fluorescence in situ hybridization and plasmid probe CW23, which spans the adjacent 3' regions of TSC2 and PKD1 genes, we identified a submicroscopic deletion on only one of the chromosomes 16p13.3, thus permitting the diagnosis of the TSC2-PKD1 contiguous gene syndrome.

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“…Studies have reported that 25% to 61% of affected individuals meet the diagnostic criteria for autism, with an even higher proportion showing features of a broader pervasive developmental disorder [2]. A recent study reported self-injurious behaviour in 10% of people with tuberous sclerosis [3].…”

Section: Introductionmentioning

confidence: 99%