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Whole Exome Sequencing Reveals a Bscl2 Mutation Causing Progressive Encephalopathy With Lipodystrophy (Peld) in an Iranian Pediatric Patient Publisher Pubmed



Alaei MR1 ; Talebi S2 ; Ghofrani M2 ; Taghizadeh M2 ; Keramatipour M2
Authors
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Authors Affiliations
  1. 1. Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Biomedical Journal Published:2016


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. Conclusion: Exome sequencing is a robust method for identifying the candidate gene variants in Mendelian traits. © 2016, Pasteur Institute of Iran. All rights reserved.
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