en Cellular and molecular Neuroscience Cellular and molecular Neuroscience News and Reports News and Reports <div style="text-align: justify;"><span style="font-size:14px;"><span style="font-family:Tahoma;"><span style="line-height:2;">Background: Growth retardation, distinctive facial dysmorphism, and intellectual disability are hallmark features of Dubowitz syndrome. Pathogenic variants at the NSUN2 and LIG4 genes are related to this syndrome. Case presentation: A male patient, 8 years old, with a clinical diagnosis of Dubowitz syndrome, was referred to the Homa Medical Genetic Laboratory. WES analysis determined a novel nonsense mutation NSUN2(NM_01755.6):c.346C>T(p.Gln116Ter) has been detected as a homozygous genotype. Sanger-based PCR-Sequencing confirmed the finding. Segregation analysis revealed heterozygosity in his unaffected parents and sister, as well as homozygosity for the mutant allele in his mother&rsquo;s uncle with the same phenotype. Conclusions: About 32 loss-of-function variants were reported to be responsible for Dubowitz syndrome. Being a nonsense variant leading to a truncated protein, not found in the genomic database, and finally, this variant should be categorized as pathogenic based on PVS1, PP4, PP1, and PM2, according to the segregation analysis results.</span></span></span></div> Dubowitz syndrome, NSUN2, Novel mutation, Ardabil 0 0 http://bcn.iums.ac.ir/browse.php?a_code=A-10-5782-2&slc_lang=en&sid=1 Homa Akhavan homa.akhavan.agh@gmail.com 13700319475328460059085 13700319475328460059085 No Department of Genomics Research, Digestive Diseases Research Center, Imam Reza Hospital, Ardabil University of Medical Sciences, Ardabil, Iran. Farzad Ahmadabadi f.ahmadabadi@arums.ac.ir 13700319475328460059086 13700319475328460059086 No Department of Neonatology, Ardabil University of Medical Sciences, Ardabil, Iran. S Erfan Hosseini-Asl erfan.hosseini.asl@gmail.com 13700319475328460059087 13700319475328460059087 No Students Research Committee, Faculty of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran. S Saied Hosseini-Asl saied.hosseiniasl@arums.ac.ir 13700319475328460059088 13700319475328460059088 Yes Department of Genomics Research, Digestive Diseases Research Center, Imam Reza Hospital, Ardabil University of Medical Sciences / Homa Genetic Laboratory, Ardabil, Iran.