Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Expansile familiäre Osteolyse

Die expansile familiäre Osteolyse ist eine autosomal dominante Erkrankung, die durch Mutationen des TNFRSF11A-Gens hervorgerufen wird. Die Erkrankung beginnt in der zweiten Lebensdekade und ist durch progressive schmerzhafte Knochendeformitäten charakterisiert.

Gliederung

Erbliche Knochenerkrankungen
Akro-reno-okuläres Syndrom
Albright-Osteodystrophie
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Expansile familiäre Osteolyse
TNFRSF11A
IVIC-Syndrom
Juveniles Paget-Syndrom
Kabuki-Syndrom
Knochendysplasie
Metabolische Knochenerkrankungen
Osteoarthritis-Neigung 5

Referenzen:

1.

Hughes AE et. al. (1994) Genetic linkage of familial expansile osteolysis to chromosome 18q.

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2.

Hughes AE et. al. (2000) Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

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3.

Whyte MP et. al. (2002) Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.

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4.

Palenzuela L et. al. (2002) Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.

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5.

Johnson-Pais TL et. al. (2003) Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.

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6.

Elahi E et. al. (2007) Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

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7.

Dickson GR et. al. (1991) Familial expansile osteolysis: a morphological, histomorphometric and serological study.

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8.

Barr RJ et. al. (1989) Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.

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9.

Osterberg PH et. al. (1988) Familial expansile osteolysis. A new dysplasia.

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10.

Whyte MP et. al. (2000) Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

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11.

Daneshi A et. al. (2005) Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis.

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12.

Schafer AL et. al. (2014) Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

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Update: 8. Mai 2019