Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia

Gruber, B. L., Couto, A. R., Armas, J. B., Brown, Matthew A., Finzel, K., & Terkeltaub, R. A. (2012) Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia. Journal of Clinical Rheumatology, 18(4), pp. 192-195.

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This report describes a 32-year-old woman presenting since childhood with progressive calcium pyrophosphate disease (CPPD), characterized by severe arthropathy and chondrocalcinosis involving multiple peripheral joints and intervertebral disks. Because ANKH mutations have been previously described in familial CPPD, the proband's DNA was assessed at this locus by direct sequencing of promoter and coding regions and revealed 3 sequence variants in ANKH. Sequences of exon 1 revealed a novel isolated nonsynonymous mutation (c.13 C>T), altering amino acid in codon 5 from proline to serine (CCG>TCG). Sequencing of parental DNA revealed an identical mutation in the proband's father but not the mother. Subsequent clinical evaluation demonstrated extensive chondrocalcinosis and degenerative arthropathy in the proband's father. In summary, we report a novel mutation, not previously described, in ANKH exon 1, wherein serine replaces proline, in a case of early-onset severe CPPD associated with metabolic abnormalities, with similar findings in the proband's father.

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ID Code: 89340
Item Type: Journal Article
Refereed: Yes
Keywords: chondrocalcinosis, inorganic pyrophosphate, pseudogout, calcium, colchicine, DNA, hydroxychloroquine, magnesium oxide, nonsteroid antiinflammatory agent, parathyroid hormone, phosphorus, prednisone, probenecid, proline, serine, adult, amino terminal sequence, ANKH gene, arthritis, arthropathy, article, articular cartilage, backache, calcification, calcium blood level, case report, codon, disease severity, elbow, exon, family history, father, female, fibrocartilage, gene, gene locus, gene mutation, gout, heterozygosity, human, hyperparathyroidism, incidence, intervertebral disk, joint radiography, joint swelling, maintenance therapy, onset age, parathyroid hormone blood level, phosphate blood level, phosphaturia, priority journal, progressive calcium pyrophosphate disease, shoulder, single nucleotide polymorphism, wrist, Antirheumatic Agents, Calcium Pyrophosphate, Drug Therapy, Combination, Glucocorticoids, Gout Suppressants, Humans, Hypophosphatemia, Familial, Mutation, Pedigree, Phosphate Transport Proteins, Prednisolone
ISSN: 1076-1608
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2012 Lippincott Williams & Wilkins, Inc.
Deposited On: 21 Oct 2015 02:14
Last Modified: 23 Feb 2016 05:25

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