Zur Genetik der Myositis ossificans progressiva

Tünte, W.; Becker, P. E.; Knorre, G. v.

doi:10.1007/bf00285740

Cited by 42 publications

(10 citation statements)

References 30 publications

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“…To date, this represents the most mutable single nucleotide reported in the human genome. In both achondroplasia and FOP, the mutations are CpG dinucleotide changes, and paternal age effects in sporadic cases have been reported (Penrose 1955;Tuente et al 1967). In achondroplasia, the initial and subsequent studies (Shiang et al 1994;Rousseau et al 1994;Bellus et al 1995) found only G380R mutation in more than 200 subjects, which led some researchers to conclude that achondroplasia is defined by recurrent G380R mutation (Bellus et al 1995).…”

Section: Resultsmentioning

confidence: 99%

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

et al. 2007

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Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and presents progressive extra-skeletal ossification. The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents. Here, we examined three Japanese patients with FOP for ACVR1 mutations. We identified the 617G>A mutation in all three patients. Our results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.

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Section: Resultsmentioning

confidence: 99%

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

et al. 2007

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“…POH is thought to be a disorder in which a somatic mutation causes mesenchymal tissue to undergo osteogenesis and chondrogenesis [18]. Fibrodysplasia ossificans progressiva likely occurs sporadically and with autosomal dominant inheritance [21]. Thus, one can speculate that a germline mutation may result in extensive, severe ectopic ossification; however, a somatic mutation occurring late in limb development would affect only a restricted area, accounting for the more localized pathology, such as occurs in BPOP.…”

Section: Discussionmentioning

confidence: 99%

Bizarre Parosteal Osteochondromatous Proliferation: Case Report and Review of the Literature

Oviedo

Simmons

Benya

et al. 2001

Pediatric and Developmental Pathology

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Bizarre parosteal osteochondromatous proliferation of bone (BPOP) is a benign lesion that is occasionally misinterpreted as a malignant process. The original reports described lesions exclusively in the hands and feet. However, subsequent reports have included additional sites in the long bones, skull, and maxilla. The differential diagnosis of BPOP includes numerous benign and malignant lesions. The benign differential diagnosis includes osteochondroma and reactive processes. The most important malignant differential diagnosis is parosteal osteosarcoma. We present a case of an 11-year-old boy with recurrent BPOP and review the literature. We discuss the differential diagnosis and pathogenesis of the lesion.

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“…To obtain a representative curve relating paternal age to mutation rate, we extracted data from four papers, selected because they give both the subjects' year of birth and parental age (Stevenson 1957;Blank 1960;Tunte et al 1967;Murdoch et al 1970). Few, if any, more recent papers give the subjects' year of birth.…”

Section: Methodsmentioning

confidence: 99%

Changing paternal age distribution and the human mutation rate in Europe

Modell

Kuliev²

1990

Hum Genet

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All available evidence indicates that the human mutation rate increases with paternal age. In developed countries, a reduction in the proportion of older parents is a common feature of the marked changes in parental age distribution that occur as a result of family planning. We have related the current paternal age distribution in the European countries for which data is readily available, to a derived curve for paternal age-specific relative mutation rate. The results indicate that, to the extent that it is dependent on paternal age, the mutation rate has decreased considerably in developed countries during the past 50 years. The human mutation rate is a dynamic entity, continuously changing in response to social conditions.

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Zur Genetik der Myositis ossificans progressiva

Cited by 42 publications

References 30 publications

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

Bizarre Parosteal Osteochondromatous Proliferation: Case Report and Review of the Literature

Changing paternal age distribution and the human mutation rate in Europe

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