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Štajer, Katarina; Kovač, Neja; Šikonja, Jaka; Mlinarič, Matej; Bertok, Sara; Brecelj, Jernej; Debeljak, Maruša; Kovač, Jernej; Markelj, Gašper; Neubauer, David; Rus, Rina; Žerjav Tanšek, Mojca; Drole Torkar, Ana; Zver, Aleksandra; Battelino, Tadej; Jiménez Torres, Rosa; Grošelj, Urh
Molecular genetics and metabolism reports, 09/2023, Letnik: 36Journal Article
Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant – c.424G > A (p.Val142Ile) in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation.
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in: SICRIS
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