Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis
Couto, A. R., Zhang, Y., Timms, A., Bruges-Armas, J., Sequeiros, J., & Brown, Matthew A. (2012) Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatology International, 32(9), pp. 2745-2751.
Familial articular chondrocalcinosis (CC) was Wrst reported in 1963. It is characterised by multiple calciWcations of hyaline and Wbrous cartilage in the joints and intervertebral discs. Mutations in ANKH have been identified in several pedigrees as a monogenic cause for this disorder. ANKH is a key protein in pyrophosphate metabolism and is involved in pyrophosphate transport across the cell membrane. The objective of this work was to screen ANKH and ENPP1, two key genes in pyrophosphate metabolism, in Slovakian kindreds with familial CC. DNA samples from 25 individuals (10 aVected, 15 unaVected) from 8 families were obtained. The promoter, coding regions and intron-exon boundaries of ANKH and ENPP1 were sequenced. Twelve DNA sequence variants, six in each gene, were identiWed. All the variants had been previously identified. None segregated with the disease. Our results suggest that neither ANKH nor ENPP1 mutations are the cause of CC in these families, indicating that possibly other major genes are involved in the aethiopathogenesis of this condition in these families.
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|Item Type:||Journal Article|
|Keywords:||Calcium pyrophosphate, Chondrocalcinosis, Genetics, article, clinical article, controlled study, DNA determination, DNA sequence, family, gene, gene mutation, genetic identification, genetic screening, genetic variability, human, intron, phosphate metabolism, priority journal, promoter region, Slovakia, Diphosphates, Exons, Female, Gene Frequency, Humans, Introns, Male, Mutation, Pedigree, Phenotype, Phosphate Transport Proteins, Phosphoric Diester Hydrolases, Pyrophosphatases|
|Divisions:||Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
|Copyright Owner:||Copyright 2011 Springer-Verlag|
|Deposited On:||20 Oct 2015 23:15|
|Last Modified:||23 Feb 2016 04:13|
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