Síndrome de deleción de genes contiguos TSC2/PKD1

Llamas‐Velasco, Sara; Camacho-Salas, Ana; Moreno, Concha; Rodríguez, Rosalva; García, Fernández-Novoa; Heras, R. Simón de la

doi:10.1016/j.anpedi.2012.12.004

Cited by 7 publications

(4 citation statements)

References 11 publications

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“… 4 8 10 Diagnosis is established by genetic testing, using the multiplex ligation-dependent probe amplification technique. 8 11 12 Years later, Sampson et al studied 27 patients with TS and multiple bilateral renal cysts and found contiguous deletions of TSC2 and PKD1 in 22 patients. 1–3 Since then, a few other case reports were published.…”

Section: Discussionmentioning

confidence: 99%

“…According to the literature, renal cysts appear earlier and in greater number in patients with TSC2 mutation. 8 Other manifestations may be found: subependymal giant cell astrocytomas, cardiac rhabdomyomas, lymphangioleiomyomatosis and multifocal micronodular pneumocyte hyperplasia. 7 9 …”

Section: Introductionmentioning

confidence: 99%

“…It is characterised by bilateral renal cysts and progression to end-stage kidney failure. 8 9 Other possible manifestations are hepatic and pancreatic cysts, aortic and cerebral aneurysms, hepatic fibrosis, intestinal diverticula and heart valve defects.…”

Section: Introductionmentioning

confidence: 99%

“…This syndrome occurs due to a large deletion involving the genes responsible for both diseases, the TSC2/PKD1 genes. 8 9 …”

Section: Introductionmentioning

confidence: 99%

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Beyond polycystic kidney disease

et al. 2017

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Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS. We present a 13-year-old girl with bilateral renal cysts detected at the age of 9 months. At the age of 13, she was referred to the Dermatology Outpatients Clinic due to a facial cutaneous eruption. She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…This syndrome occurs due to a large deletion involving the genes responsible for both diseases, the TSC2/PKD1 genes. 8 9 …”

Section: Introductionmentioning

confidence: 99%

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