Academic Journal
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
| Title: | Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review |
|---|---|
| Authors: | Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj |
| Source: | Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100986- (2023) |
| Publisher Information: | Elsevier, 2023. |
| Publication Year: | 2023 |
| Collection: | LCC:Medicine (General) LCC:Biology (General) |
| Subject Terms: | Phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426923000320; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2023.100986 |
| Access URL: | https://doaj.org/article/50a4fddc3e394652a0dc8f01a9ee15fc |
| Accession Number: | edsdoj.50a4fddc3e394652a0dc8f01a9ee15fc |
| Database: | Directory of Open Access Journals |
| ISSN: | 22144269 |
|---|---|
| DOI: | 10.1016/j.ymgmr.2023.100986 |
| Published in: | Molecular Genetics and Metabolism Reports |
| Language: | English |