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Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the <jats:italic>PRMT7<\/jats:italic> gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures).<\/jats:p><jats:p>We report on 3 additional patients from 2 consanguineous families with severe\/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in <jats:italic>PRMT7<\/jats:italic>. Our findings expand the clinical and molecular spectrum of homozygous <jats:italic>PRMT7<\/jats:italic> mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.<\/jats:p>","DOI":"10.1111\/cge.13137","type":"journal-article","created":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T12:56:37Z","timestamp":1505307397000},"page":"675-681","source":"Crossref","is-referenced-by-count":36,"title":["Expanding the clinical and molecular spectrum of <i>PRMT7<\/i> mutations: 3 additional patients and review"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-6225","authenticated-orcid":false,"given":"E.","family":"Agolini","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics Ospedale Pediatrico Bambino Ges\u00f9  Rome 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