Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial expansile osteolysis is an autosomal dominant disorder caused by mutations of the TNFRSF11A gene. It is characterized by an onset in the second decade with progresive painful bone deformities.
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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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