whole exome sequencing reveals a bscl2 mutation causing progressive encephalopathy with lipodystrophy (peld) in an iranian pediatric patient

background: 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. methods: 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. results: there was no specific sign in the clinical and paraclinical investigations of the patient to establish a conclusive clinical diagnosis. wes detected a known homozygous nonsense mutation in bscl2 (nm_001122955.3:c. 985c>t; p.arg329*). the variant is segregating in the pedigree with an autosomal recessive pattern. conclusion: exome sequencing is a robust method for identifying the candidate gene variants in mendelian traits.