Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tumor necrosis factor receptor superfamily member 11A

The TNFRSF11A gene encodes a member of the TNF receptor family and is therefore involved in regulation of immunen processes. Mutations cause autosomal recessive juvenile Paget disease, osteopetrosis, and dominant familial expansile osteolysis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial expansile osteolysis
TNFRSF11A
Autosomal recessive osteopetrosis 7
TNFRSF11A
Juvenile Paget disease
TNFRSF11A

References:

1.

Blair HC et. al. (2004) In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.

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2.

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

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3.

Anderson DM et al. (1997) A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function.

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4.

Nellissery MJ et al. (1998) Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone.

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5.

Nakagawa N et al. (1998) RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis.

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6.

Dougall WC et al. (1999) RANK is essential for osteoclast and lymph node development.

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7.

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

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8.

Li J et al. (2000) RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism.

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9.

Hocking L et al. (2000) Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q.

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10.

Good D et al. (2001) Familial Paget's disease of bone: nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree.

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11.

Wuyts W et al. (2001) Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

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12.

Sparks AB et al. (2001) Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma.

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13.

Marco-Mingot M et al. (2001) Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.

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14.

Hocking LJ et al. (2001) Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.

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15.

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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16.

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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17.

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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18.

Kapur RP et al. (2004) Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank.

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19.

Jones DH et al. (2006) Regulation of cancer cell migration and bone metastasis by RANKL.

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20.

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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21.

Guerrini MM et. al. (2008) Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

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22.

Hanada R et. al. (2009) Central control of fever and female body temperature by RANKL/RANK.

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23.

Schramek D et al. (2010) Osteoclast differentiation factor RANKL controls development of progestin-driven mammary cancer.

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24.

Gonzalez-Suarez E et al. (2010) RANK ligand mediates progestin-induced mammary epithelial proliferation and carcinogenesis.

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25.

Tan W et al. (2011) Tumour-infiltrating regulatory T cells stimulate mammary cancer metastasis through RANKL-RANK signalling.

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26.

Whyte MP et. al. (2014) Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

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27.
Update: May 9, 2019