Physical Map and Characterization of Transcripts in the Candidate Interval for Familial Chondrocalcinosis at Chromosome 5p15.1

Rojas, Katherine; Peña, Leandro; Gallardo, Teresa; Simmons, Andrew; Nyce, K.; McGrath, Rodney; Considine, Eileen L.; Vasko, Ashley; Peterson, Ellen Tinkle; Grady, Deborah L.; Cox, Roger D.; Andrew, Lee; Lovett, Michael; Overhauser, Joan; Williams, Carmen J.

doi:10.1006/geno.1999.5997

Cited by 17 publications

(9 citation statements)

References 15 publications

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“…A study carried out in Europe in 1995 linked a familial form of the condition to chromosome 5p, 5 and further work carried out linked it more closely to 5p15, the short arm of chromosome 5. 6,7 Another team has linked it to chromosome 8p as part of a syndrome with an early onset osteoarthritis, 8 and it has recently been associated with chromosome 15. 14 The pathogenesis of calcium pyrophosphate dihydrate crystal deposition is not fully understood.…”

Section: Discussionmentioning

confidence: 99%

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Bilateral temporomandibular joint pseudogout

Greaves

Fordyce

2002

Br Dent J

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Pseudogout is an acute presentation of one type of crystal deposition disease in which calcium pyrophosphate dihydrate crystals are found in the joint spaces of synovial joints. In this case, a 56-year-old caucasian male presented with right sided preauricular swelling, temporomandibular joint arthralgia and restricted mouth opening; he developed identical symptoms on the left side two days later.

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Section: Discussionmentioning

confidence: 99%

“…1 Various genetic studies have linked CPPD to chromosomes 5p, 8p and 15. [5][6][7][8] There are also associations with systemic diseases such as hypophosphatasia, hypothyroidism and hyperparathyroidism.…”

mentioning

confidence: 99%

Bilateral temporomandibular joint pseudogout

Greaves

Fordyce

2002

Br Dent J

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“…Reports linking familial CPPD deposition disease to human chromosome 5p (CCAL2) have been detailed in studies of kindred from the UK, Argentina, France, and the US [31][32][33][34]. Phenotypes of all affected individuals with chondrocalcinosis linked to chromosome 5p are not completely identical.…”

Section: Homologue Ank Gene Mutations In Chondrocalcinosismentioning

confidence: 99%

“…For instance, members of the UK kindred with primary chondrocalcinosis also presented with infantile recurrent febrile seizures [31]. Kindred from Argentina and the Alsace region of France did not manifest a seizure disorder, but had similar phenotypic features of chondrocalcinosis, including early age at onset (third decade of life), common but not universal premature OA, some cases of pseudorheumatoid arthritic peripheral joint disease, and radiographic evidence of fibrocartilage and hyaline cartilage calcifications typical of CPPD deposition (and without evidence that the crystal deposition was secondary to chondrodysplasia) [32,33]. The most commonly affected joints in these kindred were the knees and wrists, and involvement of the pubic symphysis and intervertebral discs also occurred [32,33].…”

Section: Homologue Ank Gene Mutations In Chondrocalcinosismentioning

confidence: 99%

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Calcium pyrophosphate dihydrate and hydroxyapatite crystal deposition in the joint: New developments relevant to the clinician

Pay

Terkeltaub²

2003

Curr Rheumatol Rep

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The major types of crystals containing calcium, which causes arthropathy and periarticular disease, are calcium pyrophosphate dihydrate and basic calcium phosphates, including hydroxyapatite. Exciting advances include the identification of mutations in the gene ANKH associated with disordered inorganic pyrophosphate (PPi) transport in some kindred with familial chondrocalcinosis linked to chromosome 5p. In addition, central basic mechanisms governing cartilage calcification and their relationship to aging and osteoarthritis have now been elucidated. These include the role of plasma cell glycoprotein-1, the PPi-generating ecto-enzyme, in chondrocalcinosis and the linkage of low- grade inflammation to expression and activation of two cartilage-expressed transglutaminase isoenzymes with direct calcification-stimulating activity. This review discusses clinically pertinent new information on pathogenesis. The authors also address, in detail, current diagnostic and therapeutic issues pertaining to calcium pyrophosphate dihydrate and hydroxyapatite crystal deposition in the joint, as well as possible therapeutic directions for the future.

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Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group

Tallini

Dorfman

Brys

et al. 2001

The Journal of Pathology

134

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The evaluation of chondroid lesions requires full integration of clinical, radiographic, and pathological data; tumour typing is often a challenge for the diagnostic pathologist. Although a variety of chromosomal abnormalities have been documented in chondroid lesions, the potential usefulness of cytogenetic analysis remains unclear. This study has critically reviewed and analysed 117 karyotyped samples from 100 patients with cartilaginous and chordoid tumours. Cases were selected based on successful chromosomal analysis and adequacy of clinical, radiographic, and pathological information. To ensure objective evaluation, the cytogenetic results were correlated in a double-blind setting with consensus diagnoses independently determined on each case, after complete review of the histological, radiographic, and clinical findings. Karyotypic aberrations were identified in 41/92 cartilaginous tumours (5/11 osteochondromas, 2/3 chondromyxoid fibromas, 0/4 chondroblastomas, 11/29 chondromas, 0/3 chondroid tumours of undetermined malignant potential, 22/40 chondrosarcomas and 1/2 miscellaneous cartilaginous lesions) and 5/8 chordomas. Complex karyotypic changes were a feature of malignant tumours (chondrosarcoma and chordoma) and of chondrosarcoma among cartilaginous tumours, where they correlated with high tumour grade. Among primary well-differentiated cartilaginous lesions of bone, the finding of an abnormal karyotype was consistently associated with a grade 1 chondrosarcoma diagnosis. Among karyotypically abnormal cartilaginous tumours, loss of distal 8q was associated with osteochondroma, +5 with synovial chondroma/chondromatosis and parosteal or soft tissue chondroma, alterations of chromosome arm 6q with chondromyxoid fibroma, +7 with bone chondrosarcoma, and 17p1 alterations with grade 3 chondrosarcoma. Alterations involving 12q13 characterized synovial chondroma/chondromatosis in the chondroma group and myxoid chondrosarcoma of bone in the chondrosarcoma group. In conclusion, cytogenetic abnormalities in chondroid lesions are common and are not randomly distributed. They are associated with malignancy/tumour grade as well as with specific diagnoses in many cases, and can therefore be of potential value for tumour typing.

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Physical Map and Characterization of Transcripts in the Candidate Interval for Familial Chondrocalcinosis at Chromosome 5p15.1

Cited by 17 publications

References 15 publications

Bilateral temporomandibular joint pseudogout

Bilateral temporomandibular joint pseudogout

Calcium pyrophosphate dihydrate and hydroxyapatite crystal deposition in the joint: New developments relevant to the clinician

Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group

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