ArticleIranian biomedical journal2016
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.
Article in Iranian biomedical journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.Frontiers in genetics · 2025Article
- Celia's Encephalopathy (Journal of clinical medicine · 2021Review
- Novel Targets in Glucose Homeostasis and Obesity-Lesson from Rare Mutations.Current diabetes reports · 2020Review
- Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.Italian journal of pediatrics · 2020Article
- Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.Neurogenetics · 2019Article
- Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.European journal of human genetics : EJHG · 2018Article
- Exploring Seipin: From Biochemistry to Bioinformatics Predictions.International journal of cell biology · 2018Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundProgressive 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.
methodsThe 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.
resultsThere 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.
conclusionExome sequencing is a robust method for identifying the candidate gene variants in Mendelian traits.
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