Novel ANKH amino terminus mutation (pro5ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia

Gruber, Barry L., Couto, Ana Rita, Armas, Ja´come Bruges, Brown, Matthew A., Finzel, Kathleen and Terkeltaub, Robert A. (2012) Novel ANKH amino terminus mutation (pro5ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia. Journal of Clinical Rheumatology, 18 4: 192-195. doi:10.1097/RHU.0b013e3182582c3d


Author Gruber, Barry L.
Couto, Ana Rita
Armas, Ja´come Bruges
Brown, Matthew A.
Finzel, Kathleen
Terkeltaub, Robert A.
Title Novel ANKH amino terminus mutation (pro5ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia
Journal name Journal of Clinical Rheumatology   Check publisher's open access policy
ISSN 1076-1608
1536-7355
Publication date 2012-06
Sub-type Article (original research)
DOI 10.1097/RHU.0b013e3182582c3d
Volume 18
Issue 4
Start page 192
End page 195
Total pages 4
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Collection year 2013
Language eng
Abstract 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.
Keyword Chondrocalcinosis
Pseudogout
Inorganic pyrophosphate
Calcium pyrophosphate disease
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
UQ Diamantina Institute Publications
 
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