Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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.
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Hughes AE et. al. (1994) Genetic linkage of familial expansile osteolysis to chromosome 18q. 
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Hughes AE et. al. (2000) Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
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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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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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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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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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Dickson GR et. al. (1991) Familial expansile osteolysis: a morphological, histomorphometric and serological study.
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Barr RJ et. al. (1989) Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.
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Osterberg PH et. al. (1988) Familial expansile osteolysis. A new dysplasia.
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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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