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Article

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.

Iranian biomedical journal - 1 Nov 2016

Alaei Mohammad Reza, Talebi Saeed, Ghofrani Mohammad, Taghizadeh Mohsen, Keramatipour Mohammad

Abstract excerpt

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...

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Source

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Identifiers

PMID: 27452399
DOI: 10.22045/ibj.2016.07
PMCID: PMC5075143

Genes

BSCL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.PMID 27452399Read ↗

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