Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Juvenile Paget disease is an autosomal recessive diorder caused by mutations of the TNFRSF11A gene. It is characterized by accelerated bone turnover which results in an increased cortical and trabecular mass, skeletal deformities, growth impairment, and fractures.
| 1. |
Hughes AE et. al. (2000) Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. 
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| 2. |
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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| 3. |
Whyte MP et. al. (2014) Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.
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| 4. |
Cody JD et. al. (1997) Genetic linkage of Paget disease of the bone to chromosome 18q.
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| 5. |
Haslam SI et. al. (1998) Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity.
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| 6. |
Nakatsuka K et. al. (2003) Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.
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| 7. |
Ralston SH et. al. (2008) Pathogenesis and management of Paget's disease of bone.
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| 8. |
Ralston SH et. al. (2014) Genetics of Paget's disease of bone.
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