Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease

Arthritis and Rheumatism

Volumn 48, Issue 9, 2003, Pages 2627-2631

  Williams, Charlene J ^a   Pendleton, Adrian ^b   Bonavita, Gina ^a   Reginato, Antonio J ^c   Hughes, Anne E ^b   Peariso, Shelly ^a   Doherty, Michael ^d   McCarty, Daniel J ^e   Ryan, Lawrence M ^e  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^c RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^d NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO TERMINAL SEQUENCE; ANKH GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM PYROPHOSPHATE DIHYDRATE CRYSTAL DEPOSITION DISEASE; CHONDROPATHY; CHROMOSOME 5P; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; UNITED STATES;

EID: 0141788321     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.11133     Document Type: Article

References (14)

1. Ryan LM, McCarty DJ. Calcium pyrophosphate crystal deposition disease; pseudogout; articular chondrocalcinosis. In: McCarty DJ, Koopman WJ, editors. Arthritis and allied conditions. 12th ed. Philadelphia: Lea & Febiger; 1993. p. 1835-55.
2. Doherty M, Dieppe P. Clinical aspects of calcium pyrophosphate dihydrate crystal deposition. Rheum Dis Clin North Am 1988;14:395-414.
3. Hughes AE, McGibbon D, Woodward E, Dixey J, Doherty M. Localisation of a gene for chondrocalcinosis to chromosome 5p. Hum Mol Genet 1995;4:1225-8.
4. Andrew LJ, Brancolini V, Serrano de la Pena L, Devoto M, Caeiro F, Marchegiani R, et al. Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. Am J Hum Genet 1999;64:136-45.
5. Ho A, Johnson M, Kingsley DM. Role of the mouse ank gene in control of tissue calcification and arthritis. Science 2000;289:265-70.
6. Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, et al. Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet 2002;71:933-40.
7. Gaucher A, Faure G, Netter P, Purel J, Raffoux C, Streiff F, et al. Hereditary diffuse articular chondrocalcinosis: dominant manifestation without close linkage with the HLA system in a large pedigree. Scand J Rheumatol 1977;6:217-21.
8. Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, et al. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 2002;71:985-91.
9. Perry E, Overholt EL, Newcomer KL. Familial occurrence of chondrocalcinosis (pseudogout syndrome). Wis Med J 1969;68:321-4.
10. Ryan LM, Wortmann RL, Karas B, Lynch MP, McCarty DJ. Pyrophosphohydrolase activity and inorganic pyrophosphate content of cultured human skin fibroblasts: elevated levels in some patients with calcium pyrophosphate dihydrate deposition disease. J Clin Invest 1986;77:1689-93.
11. Baldwin CT, Farrer LA, Adair R, Dharmavaram R, Jimenez S, Anderson L. Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. Am J Hum Genet 1995;56:692-7.
12. Sweet HO, Green MC. Progressive ankylosis, a new skeletal mutation in the mouse. J Hered 1981;72:87-93.
13. Hakim FT, Cranley R, Brown KS, Eanes ED, Harne L, Oppenheim JJ. Hereditary joint disorder in progressive ankylosis (ank/ank) mice. I. Association of calcium hydroxyapatite deposition with inflammatory arthropathy. Arthritis Rheum 1984;27:1411-20.
14. Ryan LM, McCarty DJ. Understanding inorganic pyrophosphate metabolism: toward prevention of calcium pyrophosphate dihydrate crystal deposition. Ann Rheum Dis 1995;54:939-41.