{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T19:10:20Z","timestamp":1778613020282,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171238"],"award-info":[{"award-number":["82171238"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disease characterized by progressive lower limb spasticity. Recent studies revealed that biallelic variants in\n                    <jats:italic>RNF170<\/jats:italic>\n                    gene cause autosomal recessive complicated HSP with infancy onset. Here, we report an adolescent\u2010onset HSP patient from a consanguineous Chinese family, with lower extremity stiffness, spastic gait, and unstable straight\u2010line walking as the main manifestations. Whole\u2010exome sequencing identifies a novel\n                    <jats:italic>RNF170<\/jats:italic>\n                    mutation c.190C&gt;T (p.R64*), which co\u2010segregates with the disease in this pedigree. Functional analysis, including quantitative real\u2010time PCR (RT\u2010qPCR) and Western blot, indicates that both the mRNA and protein levels of mutant\n                    <jats:italic>RNF170<\/jats:italic>\n                    are significantly reduced, which confirms the loss\u2010of\u2010function mechanism. Our study expands the spectrum of\n                    <jats:italic>RNF170<\/jats:italic>\n                    \u2010associated HSP, while the RNF170 protein\u2010involved degradation of the inositol 1,4,5\u2010trisphosphate receptor in neurodegenerative motor neuron disorders deserves further investigation.\n                  <\/jats:p>","DOI":"10.1111\/cge.14219","type":"journal-article","created":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T02:38:53Z","timestamp":1661999933000},"page":"87-92","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel stop\u2010gain\n                    <scp>\n                      <i>RNF170<\/i>\n                    <\/scp>\n                    variation detected in a Chinese family with adolescent\u2010onset hereditary spastic paraplegia"],"prefix":"10.1111","volume":"103","author":[{"given":"Jing\u2010Xin","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiao","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Lan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"Department of Medical Genetics, Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2203-0046","authenticated-orcid":false,"given":"Hong\u2010Fu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"Department of Medical Genetics, Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"MOE Frontier Science Center for Brain Research and Brain\u2010Machine Integration Zhejiang University  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30235-2"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2014.06.011"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1115-8"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12620-9"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28371"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-022-00685-6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.251983"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq329"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2020-323719"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15091"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0107-5"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000374"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23641"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70222-3"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw190"}],"container-title":["Clinical 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