Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.
Am J Hum Genet
; 64(1): 136-45, 1999 Jan.
Article
em En
| MEDLINE
| ID: mdl-9915952
ABSTRACT
Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of northern Italian ancestry and in a French kindred from the Alsace region. Both families presented with a common phenotype including early age at onset and deposition of crystals of calcium pyrophosphate dihydrate in a similar pattern of affected joints. Affected family members were karyotypically normal. Linkage to the short arm of chromosome 5 was observed, consistent with a previous report of linkage of the CPPDD phenotype in a large British kindred to the 5p15 region. However, recombinants in the Argentinean kindred have enabled us to designate a region<1 cM in length between the markers D5S416 and D5S2114 as the CPPDD locus.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 5
/
Pirofosfato de Cálcio
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Condrocalcinose
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article