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Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis

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Abstract

Familial articular chondrocalcinosis (CC) was first reported in 1963. It is characterised by multiple calcifications of hyaline and fibrous 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 affected, 15 unaffected) 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 identified. 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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Acknowledgments

The authors would like to thank the National Institute of Rheumatic Diseases, Piestany, Slovakia, for making available the blood samples of the investigated pedigrees. MAB was funded by a National Health and Medical Research Foundation (Australia) Principal Research Fellowship.

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Authors and Affiliations

  1. Serviço Especializado de Epidemiologia e Biologia Molecular, Hospital de Santo Espírito, Angra do Heroísmo, Azores

    Ana Rita Couto & Jacome Bruges-Armas

  2. Institute of Molecular and Cell Biology, Universidade do Porto, Porto, Portugal

    Ana Rita Couto, Jacome Bruges-Armas & Jorge Sequeiros

  3. Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, London, UK

    Yun Zhang

  4. Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA

    Andrew Timms

  5. Institute for the Biomedical Sciences Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal

    Jorge Sequeiros

  6. Human Genetics Group, University of Queensland, Diamantina Institute, Princess Alexandra Hospital, Level 4, R Wing, Ipswich Road, Woolloongabba, QLD, 4102, Australia

    Matthew A. Brown

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  1. Ana Rita Couto
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  2. Yun Zhang
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  3. Andrew Timms
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  4. Jacome Bruges-Armas
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  5. Jorge Sequeiros
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  6. Matthew A. Brown
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Correspondence to Matthew A. Brown.

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Couto, A.R., Zhang, Y., Timms, A. et al. Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatol Int 32, 2745–2751 (2012). https://doi.org/10.1007/s00296-011-2022-8

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  • DOI: https://doi.org/10.1007/s00296-011-2022-8

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