{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:56:56Z","timestamp":1771930616496,"version":"3.50.1"},"reference-count":46,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>POLR3A<\/jats:italic>\n                      gene-related syndrome is a complex genetic disorder with diverse clinical manifestations. Understanding its characteristics is crucial for diagnosis and management. Previous studies have reported various aspects of this syndrome, yet a comprehensive analysis of different Variant sites and their associated phenotypes remains necessary.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report<\/jats:title>\n                    <jats:p>\n                      This study presents a case of\n                      <jats:italic>POLR3A<\/jats:italic>\n                      -related syndrome in a pediatric patient. Symptom onset occurred after 2 years of age, initially presenting with gait disturbance. As the disease progressed, gait instability worsened progressively and was accompanied by dysarthria, intellectual developmental impairment, and tremor. Subsequent neuroimaging revealed multiple intracerebral infectious lesions with abscess formation. Whole-genome sequencing identified a homozygous c.1771-6C&amp;gt;G variant in the\n                      <jats:italic>POLR3A<\/jats:italic>\n                      gene. This variant has been previously reported as pathogenic at this locus; however, the complication of multiple intracerebral infections and abscess formation represents a previously unreported manifestation. It is noteworthy that the parents of the proband were consanguineous (first-degree relatives).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      A review of 60 unrelated probands with\n                      <jats:italic>POLR3A<\/jats:italic>\n                      -related syndrome was conducted based on previously published cases. The analysis revealed no significant sex difference in disease occurrence. The median age of onset was approximately 8 years, with common initial symptoms including gait disturbance and cognitive developmental impairment. Neuroimaging findings indicated cerebral atrophy in 31 cases (66.0%) and white matter hypomyelination in 17 cases (34.7%). Among the reported genetic variants, c.1909 + 22G&amp;gt;A was the most prevalent, identified in 19 families (17.8%), followed by c.1771-6C&amp;gt;G in 9 families (6.4%). Furthermore, patients with different variant sites displayed heterogeneity in initial symptoms, clinical presentations, and imaging characteristics. This comprehensive review enhances the understanding of the phenotypic and genotypic spectrum of\n                      <jats:italic>POLR3A<\/jats:italic>\n                      -related syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1668022","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T22:10:29Z","timestamp":1770243029000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Mengyao","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingli","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijuan","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanfang","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinye","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haohao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanmin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kang","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yunnan Qujing Central Hospital (Qujing First People\u2019s Hospital)","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/ajmg.a.10019","article-title":"Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?","author":"Atrouni","year":"2003","journal-title":"Am. 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