{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:43Z","timestamp":1786978243462,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31871262"],"award-info":[{"award-number":["31871262"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31671301"],"award-info":[{"award-number":["31671301"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary familial brain calcification (PFBC) is a rare inheritable neurodegenerative disease characterized by bilateral calcification in different brain regions and by a range of neuropsychiatric symptoms. Six causative genes of PFBC (\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      ,\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      ,\n                      <jats:italic>PDGFB<\/jats:italic>\n                      ,\n                      <jats:italic>XPR1<\/jats:italic>\n                      ,\n                      <jats:italic>MYORG<\/jats:italic>\n                      , and\n                      <jats:italic>JAM2<\/jats:italic>\n                      ) have been identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Sanger sequencing was used to identify the causative genes associated with PFBC in this study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We describe the first PFBC case with both\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      and\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      heterozygous mutations. Notably, this patient with the digenic mutation (who was only 5\u00a0years old) showed severe brain calcification and migraine, whereas the patient's parents, who each carried a heterozygous mutation in\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      or\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      , exhibited varying degrees of brain calcification but were clinically asymptomatic.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights the digenic influences on the characteristics of PFBC patients.<\/jats:p>\n                  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