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


Autoria(s): Gruber, B. L.; Couto, A. R.; Armas, J. B.; Brown, Matthew A.; Finzel, K.; Terkeltaub, R. A.
Data(s)

2012

Resumo

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.

Identificador

http://eprints.qut.edu.au/89340/

Publicador

Lippincott Williams & Wilkins

Relação

http://journals.lww.com/jclinrheum/Abstract/2012/06000/Novel_ANKH_Amino_Terminus_Mutation__Pro5Ser_.7.aspx

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.

Direitos

Copyright 2012 Lippincott Williams & Wilkins, Inc.

Fonte

Faculty of Health; Institute of Health and Biomedical Innovation

Palavras-Chave #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
Tipo

Journal Article