title: Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.
abstract: 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.
  
  
  CONCLUSIONS
  Exome sequencing is a robust method for identifying the candidate gene variants in Mendelian traits.
authors.affiliation: Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Alaei
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Saeed
authors.initials: S
authors.lastname: Talebi
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ghofrani
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Taghizadeh
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Keramatipour
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics*; D059472:Exome / Q000235:genetics; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits
keywords: BSCL2; Exome; Iran; Seipin