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Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8\/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8\/21 probands, fall in the terminal exon or the extreme 3\u2032 region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis.<\/jats:p>","DOI":"10.1093\/brain\/awz379","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T20:10:09Z","timestamp":1573589409000},"page":"55-68","source":"Crossref","is-referenced-by-count":52,"title":["MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis"],"prefix":"10.1093","volume":"143","author":[{"given":"Christopher C Y","family":"Mak","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Doherty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Washington, Seattle, WA, USA"},{"name":"Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela E","family":"Lin","sequence":"additional","affiliation":[{"name":"Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Vegas","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR 1163, Institut Imagine, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Institut Imagine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan T","family":"Cho","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg, MD, 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