Wilson’s disease in two consecutive generations in a Bulgarian Roma family

Mihaylova, Violeta; Todorov, Tihomir; Jelev, H; Cherninkova, S.; Raycheva, Margarita; Savov, A.; Kremensky, Ivo; Tournev, Ivailo

doi:10.1007/s00415-007-0564-1

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…Here we identified nine families without known consanguinity with WD diagnosed in consecutive generations. WD in subsequent generations were reported previously, but our study is based on a largest cohort of WD patients to date . According to previous highly cited studies and a recent study from Ireland, the disease prevalence was estimated between 1: 30,000 and 1:38,000 .…”

Section: Discussionmentioning

confidence: 87%

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Families with Wilson's disease in subsequent generations: Clinical and genetic analysis

et al. 2014

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Section: Discussionmentioning

confidence: 87%

“…Because of autosomal recessive inheritance, the risk of being affected is highest among a proband's siblings (25%). Rarely, WD has been detected in subsequent generations . Based on older data, the proband's offspring have a roughly 0.5% chance of being affected.…”

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confidence: 99%

Families with Wilson's disease in subsequent generations: Clinical and genetic analysis

et al. 2014

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“…The situation of Roma minorities in Eastern Europe has been a subject of debate for many scientific fields and projects, from law (Gounev, Ph., Bezlov, T., 2006; Ramet, S., 2008) to medicine (Mihailova, V. et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Preliminary case study on the environmental quality and life quality in the Romanian rural rudimentary communities

Manea¹,

Matei

Tișcovschi³

2009

European Countryside

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Abstract:In the present study, our intention is to reveal the positive and negative aspects of living, in the rural communities appearing in Romania in the last 5-6 decades; often, these have occupied territories with astonishing natural landscapes, situated close to large rural settlements with a century-old history. If, from the perspective of the quality of the natural components of the environment, inside the perimeter of these settlements we can talk about extremely favorable habitat conditions, from the perspective of the access to utilities and technical facilities, we can identify a primitive, rudimentary lifestyle, whose only goal is most oftenly, the access of the minimum resources for subsistence. This case study has been made on two communities, situated at the contact between the Subcarpathians of Arges and the Iezer-Papusa and Leaota Mountains, respectively: the Gura Pravat village, a formal settlement, which extends along the left bank of the Argesel river, north of Namaiesti tourist village and an informal village situated on the left bank of the Dambovita river, inside the Complexe Reserve Cheile de la Cetateni.Key words: rural communities, environment, life quality, Roma craftsmen, Gura Pravat, CetateniRezumat: Consideratii geografice asupra mediului si calitatii vietii in comunitatile rurale rudimentare din Romania. Studiu de caz:asezarile Cetateni si Gura Pravat. In prezentul studiu, intentia noastra este de a identifica aspectele pozitive si negative ale locuirii, in comunitatile rurale rudimentare infiripate in Romania in ultimele 5-6 decenii. Prezentul studiu releva interacţiunile dintre comunităţile de rromi şi mediul înconjurator, aspectele pozitive şi negative ale locuirii, in contextul unui studiu de caz asupra a doua asezari rudimentare, apărute în România, în a doua jumatate a secolului XX : Gura Pravat si Cheile Cetateni ; acestea ocupa teritorii cu peisaje naturale de exceptie, situate in proximitatea unor asezari rurale de mari dimensiuni si cu istorie seculara. Studiul releva faptul ca, desi din perspectiva calitatii componentelor naturale ale mediului, in perimetrul acestor localitati putem vorbi despre conditii de habitat deosebit de favorabile, din perspectiva accesului la utilitati si facilitati tehnice, identificam un mod de viata rudimentar, primitiv, centrat adesea doar pe accesarea resurselor de subzistenţă. 228/240abordări inductive cât şi deductive, pe analiza datelor din teren, in scopul identificarii specificului relaţiilor comunităţi rudimentare -natura -societate, la început de secol 21. Rezultatele obţinute arată că aceste comunităţi rudimentare de rromi demonstreaza o mare capacitate de adaptare la mediul natural -dobândita din experienţa lor de grupuri marginalizate pe situri nefavorabile, care in timp istoric i-au obligat să migreze -si de conservare a tradiţiilor, perpetuate prin autosegregare şi legităţi specifice interne, ale etniei. Studiul pune in evidenta faptul ca, populatia de rromi rudari din comunitatile analizate este încă in mare masura dependenta d...

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A genetic study of Wilson’s disease in the United Kingdom

Coffey

Durkie²,

Hague

et al. 2013

Brain

314

239

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Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with clinically and biochemically confirmed Wilson's disease. A total of 116 different ATP7B mutations were detected, 32 of which are novel. The overall mutation detection frequency was 98%. The likelihood of mutations in genes other than ATP7B causing a Wilson's disease phenotype is therefore very low. We report the first cases with Wilson's disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mutations and three families with Wilson's disease in two consecutive generations. We determined the genetic prevalence of Wilson's disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects. The frequency of all single nucleotide variants with in silico evidence of pathogenicity (Class 1 variant) was 0.056 or 0.040 if only those single nucleotide variants that had previously been reported as mutations in patients with Wilson's disease were included in the analysis (Class 2 variant). The frequency of heterozygote, putative or definite disease-associated ATP7B mutations was therefore considerably higher than the previously reported occurrence of 1:90 (or 0.011) for heterozygote ATP7B mutation carriers in the general population (P < 2.2 × 10(-16) for Class 1 variants or P < 5 × 10(-11) for Class 2 variants only). Subsequent exclusion of four Class 2 variants without additional in silico evidence of pathogenicity led to a further reduction of the mutation frequency to 0.024. Using this most conservative approach, the calculated frequency of individuals predicted to carry two mutant pathogenic ATP7B alleles is 1:7026 and thus still considerably higher than the typically reported prevalence of Wilson's disease of 1:30 000 (P = 0.00093). Our study provides strong evidence for monogenic inheritance of Wilson's disease. It also has major implications for ATP7B analysis in clinical practice, namely the need to consider unusual genetic mechanisms such as uniparental disomy or the possible presence of three ATP7B mutations. The marked discrepancy between the genetic prevalence and the number of clinically diagnosed cases of Wilson's disease may be due to both reduced penetrance of ATP7B mutations and failure to diagnose patients with this eminently treatable disorder.

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Wilson’s disease in two consecutive generations in a Bulgarian Roma family

Cited by 5 publications

References 9 publications

Families with Wilson's disease in subsequent generations: Clinical and genetic analysis

Families with Wilson's disease in subsequent generations: Clinical and genetic analysis

Preliminary case study on the environmental quality and life quality in the Romanian rural rudimentary communities

A genetic study of Wilson’s disease in the United Kingdom

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