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Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants.<\/jats:p>\n               <jats:p>Using exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17 \u00b1 12.4 years, range 0.1\u201345). Follow-up and hitherto unreported clinical features were obtained from the published 12 families. Brain MRI scans from 34 cases were reviewed.<\/jats:p>\n               <jats:p>MED27-related disease manifests as a broad phenotypic continuum ranging from developmental and epileptic-dyskinetic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. It is characterized by mild to profound global developmental delay\/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adulthood (16%). Brain MRI revealed cerebellar atrophy (100%), white matter volume loss (76.4%), pontine hypoplasia (47.2%) and basal ganglia atrophy with signal alterations (44.4%). Previously unreported 39 affected individuals had seven homozygous pathogenic missense MED27 variants, five of which were recurrent. An emerging genotype-phenotype correlation was observed.<\/jats:p>\n               <jats:p>This study provides a comprehensive clinical-radiological description of MED27-related disease, establishes genotype-phenotype and clinical-radiological correlations and suggests a differential diagnosis with syndromes of cerebello-lental neurodegeneration and other subtypes of \u2018neuro-MEDopathies\u2019.<\/jats:p>","DOI":"10.1093\/brain\/awad257","type":"journal-article","created":{"date-parts":[[2023,7,30]],"date-time":"2023-07-30T17:06:43Z","timestamp":1690736803000},"page":"5031-5043","source":"Crossref","is-referenced-by-count":23,"title":["Biallelic <i>MED27<\/i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1640-4010","authenticated-orcid":false,"given":"Rauan","family":"Kaiyrzhanov","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Cali","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7005-3787","authenticated-orcid":false,"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz , Ahvaz , Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory , Kianpars, Ahvaz , Iran"},{"name":"Ati Mehr Kasra Genetics Institute , Kianpars, Ahvaz , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , Cairo 12622 , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-4673","authenticated-orcid":false,"given":"Matteo","family":"Ferla","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre , Oxford, OX3 7BN UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5621-4046","authenticated-orcid":false,"given":"Domenico","family":"Tortora","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, IRCCS Istituto Giannina Gaslini , 16147 Genoa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7935-3401","authenticated-orcid":false,"given":"Saeid","family":"Sadeghian","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadia Maryam","family":"Saadi","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS , 44000 Faisalabad , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uzma","family":"Abdullah","sequence":"additional","affiliation":[{"name":"University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University , 46300 Rawalpindi , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Next Generation Genetic Polyclinic , Mashhad , Iran"},{"name":"Molecular and Clinical Sciences Institute, St. George\u2019s, University of London , London SW17 0RE , UK"},{"name":"Innovative Medical Research Center, Mashhad Branch, Islamic Azad University , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6zde","family":"Ye\u015fil","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University , 34093 Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahryar","family":"Alavi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha M","family":"Al Shamsi","sequence":"additional","affiliation":[{"name":"Genetic Division, Pediatrics Department, Tawam Hospital , Al Ain , UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Tajsharghi","sequence":"additional","affiliation":[{"name":"School of Health Science, Division Biomedicine 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Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0156-1614","authenticated-orcid":false,"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[{"name":"Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki , 00014 Helsinki , Finland"},{"name":"Department of Child Neurology, Children\u2019s Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital , 00014 Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jameel","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS , 44000 Faisalabad , Pakistan"},{"name":"Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University , Karachi 74800 , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3207-4074","authenticated-orcid":false,"given":"Sheraz","family":"Khan","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS , 44000 Faisalabad , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Al Shalan","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medicine department, King Abdullah Specialized Children\u2019s Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs , 22384 Riyadh , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott E","family":"Hickey","sequence":"additional","affiliation":[{"name":"Division of Genetic & Genomic Medicine, Nationwide Children\u2019s Hospital, Columbus , OH 43205 , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine, Columbus , OH 43210 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphna","family":"Marom","sequence":"additional","affiliation":[{"name":"Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University , Tel-Aviv , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emil","family":"Elhanan","sequence":"additional","affiliation":[{"name":"Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center , Tel Aviv 64239 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A","family":"Kurian","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH , UK"},{"name":"Department of Neurology, Great Ormond Street Hospital , London WC1N 1EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2233-3423","authenticated-orcid":false,"given":"Dana","family":"Marafi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 , USA"},{"name":"Department of Pediatrics, Faculty of Medicine, Kuwait University , Safat 13110 , Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alihossein","family":"Saberi","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory , Kianpars, Ahvaz , Iran"},{"name":"Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4625-0713","authenticated-orcid":false,"given":"Mohammad","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4096-6945","authenticated-orcid":false,"given":"Robert","family":"Spaull","sequence":"additional","affiliation":[{"name":"Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center , Tel Aviv 64239 , Israel"},{"name":"Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linyan","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Great Ormond Street Hospital , London WC1N 1EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Lalani","sequence":"additional","affiliation":[{"name":"Department of Neurology, Great Ormond Street Hospital , London WC1N 1EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shazia","family":"Maqbool","sequence":"additional","affiliation":[{"name":"Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children\u2019s Hospital , 54000 Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Rahman","sequence":"additional","affiliation":[{"name":"Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children\u2019s Hospital , 54000 Lahore , 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University of L\u2019Aquila , 67100 L\u2019Aquila , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hammad","family":"Yousaf","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS , 44000 Faisalabad , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Ben-Shachar","sequence":"additional","affiliation":[{"name":"Clalit Research Institute, Clalit Health Services , 6578898 Ramat Gan , Israel"},{"name":"Faculty of Medicine, Tel Aviv University , Tel Aviv , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Ejesk\u00e4r","sequence":"additional","affiliation":[{"name":"School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde , SE-541 28 Skovde , 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