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Sökning: onr:"swepub:oai:DiVA.org:uu-433034" > Atypical presentati...

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

Puusepp, Sanna (författare)
Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia.;Univ Tartu, Fac Med, Inst Clin Med, Dept Clin Genet, Tartu, Estonia.
Reinson, Karit (författare)
Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia.;Univ Tartu, Fac Med, Inst Clin Med, Dept Clin Genet, Tartu, Estonia.
Pajusalu, Sander (författare)
Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia.;Univ Tartu, Fac Med, Inst Clin Med, Dept Clin Genet, Tartu, Estonia.;Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
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van Kuilenburg, Andre B. P. (författare)
Univ Amsterdam, Amsterdam UMC, Amsterdam Gastroenterol & Metab, Dept Clin Chem,Canc Ctr Amsterdam, Amsterdam, Netherlands.
Dobritzsch, Doreen, 1972- (författare)
Uppsala universitet,Biokemi
Roelofsen, Jeroen (författare)
Univ Amsterdam, Amsterdam UMC, Amsterdam Gastroenterol & Metab, Dept Clin Chem,Canc Ctr Amsterdam, Amsterdam, Netherlands.
Stenzel, Werner (författare)
Charite Univ Med Berlin, Dept Neuropathol, Berlin, Germany.;Humboldt Univ, Freie Univ Berlin, Berlin, Germany.;Berlin Inst Hlth, Berlin, Germany.;Leibniz Sci Campus Chron Inflammat, Berlin, Germany.
Õunap, Katrin (författare)
Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia.;Univ Tartu, Fac Med, Inst Clin Med, Dept Clin Genet, Tartu, Estonia.
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Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia;Univ Tartu, Fac Med, Inst Clin Med, Dept Clin Genet, Tartu, Estonia. Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia.;Univ Tartu, Fac Med, Inst Clin Med, Dept Clin Genet, Tartu, Estonia.;Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA. (creator_code:org_t)
ELSEVIER, 2020
2020
Engelska.
Ingår i: Molecular Based Mathematical Biology. - : ELSEVIER. - 2214-4269 .- 1755-8166. ; 25
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity: Arts syndrome (OMIM: 301835), Charcot-Marie-Tooth disease type 5 (CMTX5, OMIM: 311070), and nonsyndromic X-linked deafness (DFN2, OMIM: 304500). Hearing loss is present in all cases. CMTX5 patients also show peripheral neuropathy and optic atrophy. Arts syndrome includes developmental delay, intellectual disability, ataxia, and susceptibility to infections, in addition to the above three features. Gainof-function PRPS1 variants result in PRPS superactivity (OMIM: 300661) with hyperuricemia and gout. We report a 6-year-old boy who presented with marked generalized muscular hypotonia, global developmental delay, lack of speech, trunk instability, exercise intolerance, hypomimic face with open mouth, oropharyngeal dysphagia, dysarthria, and frequent upper respiratory tract infections. However, his nerve conduction velocity, audiologic, and funduscopic investigations were normal. A novel hemizygous variant, c.130A > G p.(Ile44Val), was found in the PRPS1 gene by panel sequencing. PRPS activity in erythrocytes was markedly reduced, confirming the pathogenicity of the variant. Serum uric acid and urinary purine and pyrimidine metabolite levels were normal. In conclusion, we present a novel PRPS1 loss-of-function variant in a patient with some clinical features of Arts syndrome, but lacking a major attribute, hearing loss, which is congenital/early-onset in all other reported Arts syndrome patients. In addition, it is important to acknowledge that normal levels of serum and urinary purine and pyrimidine metabolites do not exclude PRPS1-related disorders.

Ämnesord

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)

Nyckelord

PRPS1
Arts syndrome
Purines
Autophagy

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