Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH

Charlene J. Williams; Yun Zhang; Andrew Timms; Gina Bonavita; Francisco Caeiro; John Broxholme; Jonathan Cuthbertson; Yvonne Jones; Raul Marchegiani; Antonio Reginato; R. Graham Russell; B. Paul Wordsworth; Andrew J. Carr; Matthew A. Brown

doi:10.1086/343053

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH

Charlene J. Williams, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R. Graham Russell, B. Paul Wordsworth, Andrew J. Carr, Matthew A. Brown

CMSRU Biomedical Science

Research output: Contribution to journal › Article › peer-review

93 Scopus citations

Abstract

Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.

Original language	English (US)
Pages (from-to)	985-991
Number of pages	7
Journal	American Journal of Human Genetics
Volume	71
Issue number	4
DOIs	https://doi.org/10.1086/343053
State	Published - 2002

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1086/343053

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Williams, C. J., Zhang, Y., Timms, A., Bonavita, G., Caeiro, F., Broxholme, J., Cuthbertson, J., Jones, Y., Marchegiani, R., Reginato, A., Graham Russell, R., Wordsworth, B. P., Carr, A. J., & Brown, M. A. (2002). Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. American Journal of Human Genetics, 71(4), 985-991. https://doi.org/10.1086/343053

Williams, Charlene J. ; Zhang, Yun ; Timms, Andrew ; Bonavita, Gina ; Caeiro, Francisco ; Broxholme, John ; Cuthbertson, Jonathan ; Jones, Yvonne ; Marchegiani, Raul ; Reginato, Antonio ; Graham Russell, R. ; Wordsworth, B. Paul ; Carr, Andrew J. ; Brown, Matthew A. / Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. In: American Journal of Human Genetics. 2002 ; Vol. 71, No. 4. pp. 985-991.

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title = "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH",

abstract = "Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.",

author = "Williams, {Charlene J.} and Yun Zhang and Andrew Timms and Gina Bonavita and Francisco Caeiro and John Broxholme and Jonathan Cuthbertson and Yvonne Jones and Raul Marchegiani and Antonio Reginato and {Graham Russell}, R. and Wordsworth, {B. Paul} and Carr, {Andrew J.} and Brown, {Matthew A.}",

note = "Funding Information: We thank all the family members who have assisted with this study. M.A.B., Y.Z., and A.T. are supported by the Arthritis Research Campaign, United Kingdom. C.J.W. and G.B. are supported by a National Institutes of Health/National Institute of Arthritis, Musculoskeletal, and Skin Diseases grant (to C.J.W., Principal Investigator). ",

year = "2002",

doi = "10.1086/343053",

language = "English (US)",

volume = "71",

pages = "985--991",

journal = "American Journal of Human Genetics",

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Williams, CJ, Zhang, Y, Timms, A, Bonavita, G, Caeiro, F, Broxholme, J, Cuthbertson, J, Jones, Y, Marchegiani, R, Reginato, A, Graham Russell, R, Wordsworth, BP, Carr, AJ & Brown, MA 2002, 'Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH', American Journal of Human Genetics, vol. 71, no. 4, pp. 985-991. https://doi.org/10.1086/343053

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. / Williams, Charlene J.; Zhang, Yun; Timms, Andrew; Bonavita, Gina; Caeiro, Francisco; Broxholme, John; Cuthbertson, Jonathan; Jones, Yvonne; Marchegiani, Raul; Reginato, Antonio; Graham Russell, R.; Wordsworth, B. Paul; Carr, Andrew J.; Brown, Matthew A.

In: American Journal of Human Genetics, Vol. 71, No. 4, 2002, p. 985-991.

Research output: Contribution to journal › Article › peer-review

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AU - Timms, Andrew

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AU - Caeiro, Francisco

AU - Broxholme, John

AU - Cuthbertson, Jonathan

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AU - Reginato, Antonio

AU - Graham Russell, R.

AU - Wordsworth, B. Paul

AU - Carr, Andrew J.

AU - Brown, Matthew A.

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AB - Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.

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