{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:59:55Z","timestamp":1789664395751,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC1000307"],"award-info":[{"award-number":["2016YFC1000307"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2018YFC1002201"],"award-info":[{"award-number":["2018YFC1002201"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>FBXO7<\/jats:italic>\n                      gene can cause a rare chromosomal recessive neurodegenerative disease, Parkinsonian\u2010pyramidal syndrome (PPS). Patients with this syndrome mainly show early\u2010onset Parkinson's syndrome. Here, we present a Chinese family with infantile\u2010onset PPS caused by\n                      <jats:italic>FBXO7<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The clinical phenotypes and medical records of the proband and his family members were collected. The proband, his sibling, and his parents underwent whole\u2010exome sequencing (WES) by next\u2010generation sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The proband and his sibling had a typical PPS phenotype with onset during infancy. WES identified compound heterozygous variants in the\n                      <jats:italic>FBXO7<\/jats:italic>\n                      gene, including a nonsense mutation, p. Trp134*, and a splicing mutation, IVS5\u20101G\u00a0&gt;\u00a0A, which were shared by both siblings and inherited from each of the parents. These variants have not been reported in literatures or databases. According to the American College of Medical Genetics and Genomics guidelines, the p. Trp134* and IVS5\u20101G\u00a0&gt;\u00a0A mutations were classified as pathogenic variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We report a case of siblings in a Chinese family with infantile\u2010onset PPS caused by\n                      <jats:italic>FBXO7<\/jats:italic>\n                      gene mutations determined by WES. These findings will contribute to the in\u2010depth study of the pathogenesis of PPS among patients with\n                      <jats:italic>FBXO7<\/jats:italic>\n                      gene mutations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23324","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T04:15:07Z","timestamp":1586492107000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Compound heterozygous variants of the\n                    <i>FBXO7<\/i>\n                    gene resulting in infantile\u2010onset Parkinsonian\u2010pyramidal syndrome in siblings of a Chinese family"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9249-7496","authenticated-orcid":false,"given":"Xiaohua","family":"Jin","sequence":"first","affiliation":[{"name":"National Research Institute for Family Planning Beijing 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Child Health Care Hospital Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Wang","sequence":"additional","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Feng","sequence":"additional","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4008-2402","authenticated-orcid":false,"given":"Xiaofang","family":"Cao","sequence":"additional","affiliation":[{"name":"National 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