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Article

Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease.

Osteoarthritis and cartilage - 1 Jun 2018

Williams C J, Qazi U, Bernstein M, Charniak A, Gohr C, Mitton-Fitzgerald E, Ortiz A, Cardinal L, Kaell A T, Rosenthal A K

Abstract excerpt

OBJECTIVE: Mutations on chromosomes 5p (CCAL2) and 8q (CCAL1) have been linked to familial forms of calcium pyrophosphate deposition disease (CPDD). Mutations in the ANKH gene account for CCAL2, but the identity of CCAL1 has been elusive. Recently, a single Dutch kindred with a mutation in the Tumor Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) was described as...

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Identifiers

PMID: 29578045
DOI: 10.1016/j.joca.2018.03.005
PMCID: PMC6293976

Genes

ANKH

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