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.

View at publisher


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.

Impact and interest:

2 citations in Scopus
Search Google Scholar™
1 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 89346
Item Type: Journal Article
Refereed: Yes
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
DOI: 10.1007/s00296-011-2022-8
ISSN: 0172-8172
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

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page