en Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله موردی Case Report <p><strong>Background: </strong>Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing.<strong> Methods</strong>: The proband showed a generalized hypertonia and regression of all developmental milestones. Based on the advantages of next-generation sequencing (NGS), whole exome sequencing (WES) was requested. The functional significance of variants was evaluated by NGS-specific prediction servers. Sanger sequencing was used for segregation analysis in the family.<strong> Results:</strong> There&nbsp;was no specific sign in the clinical and paraclinical investigations of the patient to establish a conclusive<br> clinical diagnosis. WES detected a known homozygous nonsense mutation in <em>BSCL2 </em>(NM_001122955.3:c.&nbsp;985C>T; p.Arg329*). The variant is segregating in the pedigree with an autosomal recessive pattern.&nbsp;<strong>Conclusion:</strong> Exome sequencing is a robust method for identifying the candidate gene variants in Mendelian traits.&nbsp;</p> Exome, BSCL2, Seipin, Iran 295 301 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-625&slc_lang=en&sid=1 Mohammad Reza Alaei No Saeed Talebi No Mohammad Ghofrani No Mohsen Taghizadeh No Mohammad Keramatipour keramatipour@tums.ac.ir Yes