Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Štajer, Katarina (author), Kovač, Neja (author), Šikonja, Jaka (author), Mlinarič, Matej (author), Bertok, Sara (author), Brecelj, Jernej (author), Debeljak, Maruša (author), Kovač, Jernej (author), Markelj, Gašper (author), Neubauer, David (author), Rus, Rina (author), Žerjav-Tanšek, Mojca (author), Drole Torkar, Ana (author), Zver, Aleksandra (author), Battelino, Tadej (author), Jiménez Torres, Rosa (author), Grošelj, Urh (author)

Phosphoribosyl pyrophosphate synthetase 1 (PRS–I) 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 nonsyndromic 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.

• Language: English
• Keywords: phosphoribosyl pyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2023
• Number of pages: 9 str.
• Numbering: Vol. 36, art. 100986
• PID: 20.500.12556/RUL-153125
• UDC: 61
• ISSN on article: 2214-4269
• DOI: 10.1016/j.ymgmr.2023.100986
• COBISS.SI-ID: 158433283
• Publication date in RUL: 18.12.2023

Record is a part of a journal

• Title: Molecular genetics and metabolism reports
• Publisher: Elsevier
• ISSN: 2214-4269
• COBISS.SI-ID: 520387097

Licences

• License: CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
• Link: http://creativecommons.org/licenses/by-nc-nd/4.0/
• Description: The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0343
• Name: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih