Journal article

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I

Rocio Moran, Andre BP Kuilenburg, John Duley, Sander B Nabuurs, Aditia Retno-Fitri, John Christodoulou, Jeroen Roelofsen, Helger G Yntema, Neil R Friedman, Hans van Bokhoven, Arjan PM de Brouwer

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY-BLACKWELL | Published : 2012

Abstract

We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections. The uric acid overproduction accompanying this combination of symptoms suggests that the patient presented with phosphoribosylpyrophosphate (PRPP) synthetase superactivity, but recurrent infections have not been associated with superactivity until now. However, recurrent infections are a prominent feature of patients with Arts syndrome, which is caused by PRPS1 loss-of-function mutations, indicating that the patient reported here has an intermediate phenotype. Molecular mod..

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Grants

Awarded by EU


Awarded by Dutch Brain Foundation


Awarded by Dutch Organization for Health Research and Development (ZON-MW)


Awarded by Netherlands Organization for Scientific Research (NWO; VENI)


Funding Acknowledgements

Grant sponsor: EU 7th Framework Program; Grant number: 241995 (GENCODYS); Grant sponsor: Dutch Brain Foundation; Grant number: 2009(2)-81; Grant sponsor: Dutch Organization for Health Research and Development (ZON-MW); Grant number: 917-86-319; Grant sponsor: Netherlands Organization for Scientific Research (NWO; VENI); Grant number: 700.58.410.