{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:34:26Z","timestamp":1787020466125,"version":"build-2736575974"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T00:00:00Z","timestamp":1713571200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T00:00:00Z","timestamp":1713571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the Health Department of Guangxi Province","award":["Z-A20220256"],"award-info":[{"award-number":["Z-A20220256"]}]},{"name":"Guangxi Medical and Health Appropriate Technology Development and Promotion Application","award":["S2020060"],"award-info":[{"award-number":["S2020060"]}]},{"name":"Guangxi Clinical Research Center for Pediatric Diseases","award":["Guike AD22035121"],"award-info":[{"award-number":["Guike AD22035121"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the\n                    <jats:italic>NSUN2<\/jats:italic>\n                    gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation. In this study, we recruited a family that had two individuals with ID. Whole exome sequencing was performed to identify a homozygous frameshift variant (c.1171_1175delACCAT(p.Thr391fs*18*)) in\n                    <jats:italic>NSUN2<\/jats:italic>\n                    (NM_017755.5) in the proband. The varint was confirmed as segregating in his affected brother and his parents by Sanger sequencing. The individuals that we described showed a similar dysmorphology profile to that associated with MRT5. To analyze the correlations between genotypes of\n                    <jats:italic>NSUN2<\/jats:italic>\n                    and phenotypes of individuals with ID, we examined 17 variants and the associated phenotypes from 32 ID individuals in current and previous studies. We concluded that mutations in\n                    <jats:italic>NSUN2<\/jats:italic>\n                    cause a wide range of phenotypic defects. Although some clinical manifestations were highly variable, the core phenotypes associated with NSUN2 mutations were dysmorphic facies, microcephaly, short stature, ID, growth restriction, language impairment, hypotonia and delayed puberty. Our study expands the genetic spectrum of\n                    <jats:italic>NSUN2<\/jats:italic>\n                    mutations and helps to further define the genotype-phenotype correlations in MRT5.\n                  <\/jats:p>","DOI":"10.1186\/s12920-024-01883-x","type":"journal-article","created":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T22:53:03Z","timestamp":1713653583000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel variant in NSUN2 causes intellectual disability in a Chinese family"],"prefix":"10.1186","volume":"17","author":[{"given":"Qi","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zailong","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shang","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingsi","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,20]]},"reference":[{"key":"1883_CR1","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1016\/j.ajhg.2012.03.021","volume":"90","author":"L Abbasi-Moheb","year":"2012","unstructured":"Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, et al. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 2012;90:847\u201355. https:\/\/doi.org\/10.1016\/j.ajhg.2012.03.021.","journal-title":"Am J Hum Genet."},{"issue":"94","key":"1883_CR2","first-page":"e00544","volume":"16","author":"M Eckwahl","year":"2020","unstructured":"Eckwahl M, Xu R, Michalkiewicz J, Zhang W, Patel P, Cai Z, et al. 5-Methylcytosine RNA Modifications Promote Retrovirus Replication in an ALYREF Reader Protein-Dependent Manner. J Virol. 2020;16(94):e00544\u201320.","journal-title":"J Virol."},{"key":"1883_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ceb.2014.06.006","volume":"31","author":"S Blanco","year":"2014","unstructured":"Blanco S, Frye M. Role of RNA methyltransferases in tissue renewal and pathology. 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The study was conducted in accordance with the Good Clinical Practice and the Declaration of Helsinki.\u00a0Written informed consent for the publication of data was obtained from the parents of the patients.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"95"}}