Two new studies show that mutations in tartrate-resistant acid phosphatase (TRAP) cause spondyloenchondrodysplasia, a rare recessive disease associated with short stature, brain calcifications and lupus-like autoimmunity. The complex clinical syndrome is probably mediated by impaired dephosphorylation of osteopontin.
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Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations
Molecular Genetics and Genomics Open Access 03 April 2023
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T.W.B. and R.R.G. are full-time employees of Genentech.
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Behrens, T., Graham, R. TRAPing a new gene for autoimmunity. Nat Genet 43, 90–91 (2011). https://doi.org/10.1038/ng0211-90
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DOI: https://doi.org/10.1038/ng0211-90
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