2012
DOI: 10.1210/jc.2011-2597
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The Endemic Paraganglioma Syndrome Type 1: Origin, Spread, and Clinical Expression

Abstract: A combination of particular demographic, geographical, and historical conditions has resulted in the oldest and largest SDHD founder effect so far characterized and has transformed a rare disease into an endemic disease with major public health implications.

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Cited by 26 publications
(32 citation statements)
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“…Founder effect of HNPGL has also been reported in Dutch (Lee et al, 2003b), Italian (Simi et al, 2005;Schiavi et al, 2012), American (Baysal et al, 2000). However, our study demonstrated that the p.Met1Ile mutation at the start codon of the SDHD gene might be associated with "occult familial" cases due to parent-of-origin effect and environmental factor (Pasini and Stratakis, 2009).…”
Section: No Of Cases (%)supporting
confidence: 47%
“…Founder effect of HNPGL has also been reported in Dutch (Lee et al, 2003b), Italian (Simi et al, 2005;Schiavi et al, 2012), American (Baysal et al, 2000). However, our study demonstrated that the p.Met1Ile mutation at the start codon of the SDHD gene might be associated with "occult familial" cases due to parent-of-origin effect and environmental factor (Pasini and Stratakis, 2009).…”
Section: No Of Cases (%)supporting
confidence: 47%
“…Hereditary paraganglioma syndromes occur in approximately 25% of cases, and the SDH enzyme complex gene mutation has been identifi ed as the cause of familial types (13)(14)(15). Patients with hereditary paraganglioma syndrome have a greater incidence of bilateral tumors and develop tumors at a younger age than those with sporadic tumors.…”
Section: Discussionmentioning
confidence: 99%
“…A population-based study conducted in the Trentino area on a sample of 4000 people living in the valleys and on the plateau showed a prevalence of 1.5% of the mutation in the general population. The penetrance of this founder mutation is particularly high in this area, about 80%, while the phenotype resulted variable with a high prevalence of glomus carotid PGL, but a low prevalence of pheochromocytoma and malignant variants [2,10,16].…”
Section: Introductionmentioning
confidence: 95%
“…In a population living in the Trentino Region (a geographical area in Italy including the Mocheni valley, Pinè Plateau and Cembra valley) the authors identified a founder effect for SDHD mutation c.341A > G [2]. A population-based study conducted in the Trentino area on a sample of 4000 people living in the valleys and on the plateau showed a prevalence of 1.5% of the mutation in the general population.…”
Section: Introductionmentioning
confidence: 99%
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