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More than 150 proteins participate in the splicing process and are organized in the spliceosomal A, B, and C complexes. FRA10AC1 is a peripheral protein of the spliceosomal C complex and its ortholog in the green alga facilitates recognition or interaction with splice sites. We identified biallelic pathogenic variants in FRA10AC1 in five individuals from three consanguineous families. The two unrelated Patients 1 and 2 with loss-of-function variants showed developmental delay, intellectual disability, and no speech, while three siblings with the c.494_496delAAG (p.Glu165del) variant had borderline to mild intellectual disability. All patients had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. FRA10AC1 transcripts and proteins were drastically reduced or absent in fibroblasts of Patients 1 and 2. In a heterologous expression system, the p.Glu165del variant impacts intrinsic stability of FRA10AC1 but does not affect its nuclear localization. By co-immunoprecipitation, we found ectopically expressed HA-FRA10AC1 in complex with endogenous DGCR14, another component of the spliceosomal C complex, while the splice factors CHERP, NKAP, RED, and SF3B2 could not be co-immunoprecipitated. Using an in vitro splicing reporter assay, we did not obtain evidence for FRA10AC1 deficiency to suppress missplicing events caused by mutations in the highly conserved dinucleotides of 5\u2032 and 3\u2032 splice sites in an in vitro splicing assay in patient-derived fibroblasts. Our data highlight the importance of specific peripheral spliceosomal C complex proteins for neurodevelopment. It remains possible that FRA10AC1 may have other and\/or additional cellular functions, such as coupling of transcription and splicing reactions.<\/jats:p>","DOI":"10.1093\/brain\/awab403","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T15:11:18Z","timestamp":1634829078000},"page":"1551-1563","source":"Crossref","is-referenced-by-count":17,"title":["Biallelic\n                    <i>FRA10AC1<\/i>\n                    variants cause a neurodevelopmental disorder with growth retardation"],"prefix":"10.1093","volume":"145","author":[{"given":"Leonie","family":"von Elsner","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoliang","family":"Chai","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"},{"name":"Rady Children\u2019s Institute for Genomic Medicine, San Diego, CA 92130, USA"},{"name":"Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8282-7367","authenticated-orcid":false,"given":"Pauline E","family":"Schneeberger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederike L","family":"Harms","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Casar","sequence":"additional","affiliation":[{"name":"Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minyue","family":"Qi","sequence":"additional","affiliation":[{"name":"Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malik","family":"Alawi","sequence":"additional","affiliation":[{"name":"Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M H","family":"Abdel-Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt"},{"name":"Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt"},{"name":"Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Arndt","sequence":"additional","affiliation":[{"name":"Department for Pediatric Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"},{"name":"Rady Children\u2019s Institute for Genomic Medicine, San Diego, CA 92130, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2212-7796","authenticated-orcid":false,"given":"Valentina","family":"Stanley","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"},{"name":"Rady Children\u2019s Institute for Genomic Medicine, San Diego, CA 92130, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA"},{"name":"Rady Children\u2019s Institute for Genomic Medicine, San Diego, CA 92130, 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