{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T19:50:43Z","timestamp":1793044243570,"version":"4.5.0"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000265","name":"RCUK | Medical Research Council","doi-asserted-by":"publisher","award":["MR\/V037838\/1"],"award-info":[{"award-number":["MR\/V037838\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"RCUK | Medical Research Council","doi-asserted-by":"publisher","award":["MR\/N013638\/1"],"award-info":[{"award-number":["MR\/N013638\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Only five children with pathogenic <jats:italic>PMPCB<\/jats:italic> gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the <jats:italic>PMPCB<\/jats:italic> gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.<\/jats:p>","DOI":"10.1038\/s10038-024-01226-9","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T08:02:45Z","timestamp":1708329765000},"page":"283-285","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene"],"prefix":"10.1038","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3810-306X","authenticated-orcid":false,"given":"Emma","family":"Matthews","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ella F.","family":"Whittle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faraan","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriel","family":"McEntagart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,19]]},"reference":[{"key":"1226_CR1","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1016\/j.ajhg.2018.02.014","volume":"102","author":"FN V\u00f6gtle","year":"2018","unstructured":"V\u00f6gtle FN, Br\u00e4ndl B, Larson A, Pendziwiat M, Friederich MW, White SM, et al. Mutations in PMPCB encoding the catalytic subunit of the mitochondrial presequence protease cause neurodegeneration in early childhood. Am J Hum Genet. 2018;102:557\u201373.","journal-title":"Am J Hum Genet"},{"key":"1226_CR2","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/0378-1119(95)00223-S","volume":"161","author":"TC Burn","year":"1995","unstructured":"Burn TC, Connors TD, Klinger KW, Landes GM. Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector. Gene. 1995;161:183\u20137.","journal-title":"Gene"},{"key":"1226_CR3","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/B978-0-12-821751-1.00015-4","volume":"194","author":"S Rahman","year":"2023","unstructured":"Rahman S. Leigh syndrome. Handb Clin Neurol. 2023;194:43\u201363.","journal-title":"Handb Clin Neurol"},{"key":"1226_CR4","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1002\/ana.26716","volume":"94","author":"EM McCormick","year":"2023","unstructured":"McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, et al. Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Ann Neurol. 2023;94:696\u2013712.","journal-title":"Ann Neurol"},{"key":"1226_CR5","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.3390\/ijms23031297","volume":"23","author":"N Kunov\u00e1","year":"2022","unstructured":"Kunov\u00e1 N, Havalov\u00e1 H, Ondrovi\u010dov\u00e1 G, Stojkovi\u010dov\u00e1 B, Bauer JA, Bauerov\u00e1-Hlinkov\u00e1 V, et al. Mitochondrial processing peptidases-structure, function and the role in human diseases. Int J Mol Sci. 2022;23:1297.","journal-title":"Int J Mol Sci"},{"key":"1226_CR6","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1016\/S0969-2126(01)00621-9","volume":"9","author":"AB Taylor","year":"2001","unstructured":"Taylor AB, Smith BS, Kitada S, Kojima K, Miyaura H, Otwinowski Z, et al. Crystal structures of mitochondrial processing peptidase reveal the mode for specific cleavage of import signal sequences. Structure. 2001;9:615\u201325.","journal-title":"Structure"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01226-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01226-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01226-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T23:02:55Z","timestamp":1716591775000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01226-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,19]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["1226"],"URL":"https:\/\/doi.org\/10.1038\/s10038-024-01226-9","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,19]]},"assertion":[{"value":"18 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 January 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 January 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 February 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study was conducted in accordance with the Declaration of Helsinki. Written and verbal informed consent was obtained from the patient\u2019s mother. The authors confirm that the approval of the institutional review board is not required for this work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}