Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene

Charlene Williams

Research output: Contribution to journalReview article

19 Citations (Scopus)

Abstract

The crystal deposition arthropathies comprise a host of disorders that may occur idiopathically or as secondary manifestations of associated diseases. Rarely, crystal deposition presents as a familial disorder. Most affected family members display radiographically detectable crystals of calcium pyrophosphate dihydrate in their joint spaces. In genetic studies of familial calcium pyrophosphate dihydrate deposition disease, a region on the short arm of chromosome 5 was found to be genetically linked to the phenotype displayed by several of these families. Among the positional candidates at this locus was ANKH, the human homolog of a gene that is responsible for the phenotype of progressive ankylosis (ank) in the mouse. ANKH codes for a transmembrane protein that appears to regulate the transport of inorganic pyrophosphate. It was analyzed as a potential positional candidate gene for calcium pyrophosphate dihydrate deposition disease, and in several unrelated families, sequence variants were identified that segregated with the calcium pyrophosphate dihydrate deposition disease phenotype among affected members. A discussion of ANKH as the familial calcium pyrophosphate dihydrate deposition disease gene is presented.

Original languageEnglish (US)
Pages (from-to)326-331
Number of pages6
JournalCurrent Opinion in Rheumatology
Volume15
Issue number3
DOIs
StatePublished - May 1 2003

Fingerprint

Phenotype
Genes
Calcium Pyrophosphate
Ankylosis
Chromosomes, Human, Pair 5
Joints
Chondrocalcinosis 2
Proteins
diphosphoric acid
Crystal Arthropathies

All Science Journal Classification (ASJC) codes

  • Rheumatology

Cite this

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abstract = "The crystal deposition arthropathies comprise a host of disorders that may occur idiopathically or as secondary manifestations of associated diseases. Rarely, crystal deposition presents as a familial disorder. Most affected family members display radiographically detectable crystals of calcium pyrophosphate dihydrate in their joint spaces. In genetic studies of familial calcium pyrophosphate dihydrate deposition disease, a region on the short arm of chromosome 5 was found to be genetically linked to the phenotype displayed by several of these families. Among the positional candidates at this locus was ANKH, the human homolog of a gene that is responsible for the phenotype of progressive ankylosis (ank) in the mouse. ANKH codes for a transmembrane protein that appears to regulate the transport of inorganic pyrophosphate. It was analyzed as a potential positional candidate gene for calcium pyrophosphate dihydrate deposition disease, and in several unrelated families, sequence variants were identified that segregated with the calcium pyrophosphate dihydrate deposition disease phenotype among affected members. A discussion of ANKH as the familial calcium pyrophosphate dihydrate deposition disease gene is presented.",
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Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. / Williams, Charlene.

In: Current Opinion in Rheumatology, Vol. 15, No. 3, 01.05.2003, p. 326-331.

Research output: Contribution to journalReview article

TY - JOUR

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AU - Williams, Charlene

PY - 2003/5/1

Y1 - 2003/5/1

N2 - The crystal deposition arthropathies comprise a host of disorders that may occur idiopathically or as secondary manifestations of associated diseases. Rarely, crystal deposition presents as a familial disorder. Most affected family members display radiographically detectable crystals of calcium pyrophosphate dihydrate in their joint spaces. In genetic studies of familial calcium pyrophosphate dihydrate deposition disease, a region on the short arm of chromosome 5 was found to be genetically linked to the phenotype displayed by several of these families. Among the positional candidates at this locus was ANKH, the human homolog of a gene that is responsible for the phenotype of progressive ankylosis (ank) in the mouse. ANKH codes for a transmembrane protein that appears to regulate the transport of inorganic pyrophosphate. It was analyzed as a potential positional candidate gene for calcium pyrophosphate dihydrate deposition disease, and in several unrelated families, sequence variants were identified that segregated with the calcium pyrophosphate dihydrate deposition disease phenotype among affected members. A discussion of ANKH as the familial calcium pyrophosphate dihydrate deposition disease gene is presented.

AB - The crystal deposition arthropathies comprise a host of disorders that may occur idiopathically or as secondary manifestations of associated diseases. Rarely, crystal deposition presents as a familial disorder. Most affected family members display radiographically detectable crystals of calcium pyrophosphate dihydrate in their joint spaces. In genetic studies of familial calcium pyrophosphate dihydrate deposition disease, a region on the short arm of chromosome 5 was found to be genetically linked to the phenotype displayed by several of these families. Among the positional candidates at this locus was ANKH, the human homolog of a gene that is responsible for the phenotype of progressive ankylosis (ank) in the mouse. ANKH codes for a transmembrane protein that appears to regulate the transport of inorganic pyrophosphate. It was analyzed as a potential positional candidate gene for calcium pyrophosphate dihydrate deposition disease, and in several unrelated families, sequence variants were identified that segregated with the calcium pyrophosphate dihydrate deposition disease phenotype among affected members. A discussion of ANKH as the familial calcium pyrophosphate dihydrate deposition disease gene is presented.

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