{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T03:50:38Z","timestamp":1777002638530,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["\u2116 25\u201065\u201000031"],"award-info":[{"award-number":["\u2116 25\u201065\u201000031"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>PDXK<\/jats:italic>\n                      \u2010related neuropathy is a rare form of hereditary motor and sensory neuropathy with optic atrophy, caused by biallelic variants in the\n                      <jats:italic>PDXK<\/jats:italic>\n                      gene. To date, only four missense variants have been reported in 13 patients from six families. Unlike most inherited neuropathies, which currently have only symptomatic treatments, this type of neuropathy can be managed with pyridoxal 5\u2032\u2010phosphate supplementation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The clinical presentation of the patient was evaluated twice, at ages 14 and 15\u2009years. The whole\u2010exome sequencing was performed for the proband followed by functional studies using RNA extracted from the proband's and proband's mother's peripheral blood mononuclear cells.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In this study, we provided a brief literature review on\n                      <jats:italic>PDXK<\/jats:italic>\n                      \u2010related neuropathy and reported a female patient with a novel missense variant (c.826G&gt;C, p.(Ala276Pro)) found in compound heterozygous state with a previously reported variant (c.659G&gt;A, p.[Arg220Gln]) in the\n                      <jats:italic>PDXK<\/jats:italic>\n                      gene. Additionally, she carried a novel likely pathogenic missense variant (c.1180C&gt;T, p.[Arg394Cys]) in the\n                      <jats:italic>GCK<\/jats:italic>\n                      gene, associated with MODY2, which was segregated with hyperglycemia in her family. The novel variant c.826G&gt;C in the\n                      <jats:italic>PDXK<\/jats:italic>\n                      gene was predicted to disrupt splicing that was confirmed by our functional studies. The patient exhibited typical peripheral neuropathy but no optic atrophy, likely due to her young age.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Here we report a novel splice\u2010altering missense variant in\n                      <jats:italic>PDXK<\/jats:italic>\n                      that induces aberrant transcript degradation, revealing a new disease mechanism for\n                      <jats:italic>PDXK<\/jats:italic>\n                      \u2010related neuropathy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70210","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T04:02:39Z","timestamp":1774584159000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>PDXK<\/i>\n                    <\/scp>\n                    \u2010Related Neuropathy: A Case With a Novel Splice\u2010Altering Missense Variant and Literature Review"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-9862-0273","authenticated-orcid":false,"given":"Dmitrii","family":"Subbotin","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7001-4099","authenticated-orcid":false,"given":"Daria","family":"Akimova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Dadali","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Mikhalchuk","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5871-8005","authenticated-orcid":false,"given":"Artem","family":"Borovikov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vitaly","family":"Kadyshev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikhail","family":"Skoblov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010025\u201005940\u2010w"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000443706"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01656.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25524"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016\u20102490"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.04.004"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.85581"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND\u2010210652"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529\u20108027.2011.00350.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582\u2010019\u20100254\u20105"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabres.2019.04.017"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/17460751.2025.2491257"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/07391102.2014.913989"}],"container-title":["Molecular Genetics &amp; 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