{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T00:01:04Z","timestamp":1762300864623,"version":"3.40.3"},"reference-count":58,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT093205MA","WT104033AIA"],"award-info":[{"award-number":["WT093205MA","WT104033AIA"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011102","name":"European Community\u2019s Seventh Framework Programme","doi-asserted-by":"publisher","award":["2012-305121"],"award-info":[{"award-number":["2012-305121"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008721","name":"University College London Hospitals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008721","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018942","name":"Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018942","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005639","name":"Fidelity Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005639","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009374","name":"Pakistan Science Foundation","doi-asserted-by":"publisher","award":["PSF\/Res\/KPK-UoS\/Med"],"award-info":[{"award-number":["PSF\/Res\/KPK-UoS\/Med"]}],"id":[{"id":"10.13039\/100009374","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014653","name":"NIHR Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203308"],"award-info":[{"award-number":["NIHR203308"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have been described in only six individuals carrying five biallelic predicted loss-of-function (pLOF) variants.<\/jats:p>\n               <jats:p>To define the phenotypic effects of RBL2 mutations in detail, we identified and clinically characterized a cohort of 35 patients from 20 families carrying pLOF variants in RBL2, including 15 new variants that substantially broaden the molecular spectrum. The clinical presentation of affected individuals is characterized by a range of neurological and developmental abnormalities. Global developmental delay and intellectual disability were observed uniformly, ranging from moderate to profound and involving lack of acquisition of key motor and speech milestones in most patients. Disrupted sleep was also evident in some patients. Frequent features included postnatal microcephaly, infantile hypotonia, aggressive behaviour, stereotypic movements, seizures and non-specific dysmorphic features. Neuroimaging features included cerebral atrophy, white matter volume loss, corpus callosum hypoplasia and cerebellar atrophy.<\/jats:p>\n               <jats:p>In parallel, we used the fruit fly, Drosophila melanogaster, to investigate how disruption of the conserved RBL2 orthologue Rbf impacts nervous system function and development. We found that Drosophila Rbf LOF mutants recapitulate several features of patients harbouring RBL2 variants, including developmental delay, alterations in head and brain morphology, locomotor defects and perturbed sleep. Surprisingly, in addition to its known role in controlling tissue growth during development, we found that continued Rbf expression is also required in fully differentiated post-mitotic neurons for normal locomotion in Drosophila, and that adult-stage neuronal re-expression of Rbf is sufficient to rescue Rbf mutant locomotor defects.<\/jats:p>\n               <jats:p>Taken together, our study provides a clinical and experimental basis to understand genotype\u2013phenotype correlations in an RBL2-linked neurodevelopmental disorder and suggests that restoring RBL2 expression through gene therapy approaches might ameliorate some symptoms caused by RBL2 pLOF.<\/jats:p>","DOI":"10.1093\/brain\/awae363","type":"journal-article","created":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T14:10:18Z","timestamp":1734531018000},"page":"1194-1211","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and genetic characterization of a progressive <i>RBL2<\/i>-associated neurodevelopmental disorder"],"prefix":"10.1093","volume":"148","author":[{"given":"Gabriel N","family":"Aughey","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Cali","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre , Dokki, Cairo 12622 ,","place":["Egypt"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7334-0602","authenticated-orcid":false,"given":"Alistair T","family":"Pagnamenta","sequence":"additional","affiliation":[{"name":"NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford , Oxford OX3 7BN ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zafar","family":"Ali","sequence":"additional","affiliation":[{"name":"Centre for Biotechnology and Microbiology, University of Swat , Charbagh, Swat, Khyber Pakhtunkhwa 19120 ,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uzma","family":"Abdulllah","sequence":"additional","affiliation":[{"name":"University Institute of Biochemistry 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