Volume 20, Issue 5 (11-2016)                   ibj 2016, 20(5): 295-301 | Back to browse issues page

XML Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Alaei M R, Talebi S, Ghofrani M, Taghizadeh M, Keramatipour M. Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. ibj. 2016; 20 (5) :295-301
URL: http://ibj.pasteur.ac.ir/article-1-1769-en.html

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. 

Keywords: Exome, BSCL2, Seipin, Iran
Type of Study: Case Report | Subject: Molecular Genetics & Genomics

Add your comments about this article : Your username or Email:

Send email to the article author

© 2021 All Rights Reserved | Iranian Biomedical Journal

Designed & Developed by : Yektaweb