Related Experiment Video

Updated: Aug 4, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

36.3K

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of

Bülent Kara1, Oya Uyguner2, Hülya Maraş Genç1

  • 1Division of Child Neurology, Department of Pediatrics, Kocaeli University Medical Faculty, Izmit, Turkey.

Molecular Syndromology
|February 28, 2022
PubMed

Insights

Pathogenic variants in the BEND4 gene can cause acute necrotizing encephalopathy, triggered by infections. This genetic condition affects brain development and function in affected children.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Normal brain development in three siblings was followed by acute neurological deterioration.
  • Deterioration involved loss of motor, social, and language functions after infections.
  • Neuroimaging revealed pontine cyst, calcification, and cerebellar atrophy.

Purpose of the Study:

  • To identify the genetic cause of the observed neurological disorder.
  • To investigate the functional consequences of the identified genetic variant.

Main Methods:

  • Exome sequencing to identify genetic alterations.
  • In silico analysis to predict the pathogenicity of variants.
  • Immunofluorescence microscopy to analyze protein localization.
  • Differential proteome analysis to identify affected cellular pathways.

Main Results:

  • A homozygous c.1297G>A (p.Gly433Ser) alteration in the BEND4 gene was identified.
  • The BEND4 variant segregated with the disease in affected family members.
  • Mutant BEND4 showed altered cellular localization and affected endoplasmic reticulum protein levels (reticulocalbin-1, ER resident protein-29), impacting protein folding pathways.

Conclusions:

  • Pathogenic BEND4 variants are associated with infection-induced acute necrotizing encephalopathy.
  • This study identifies BEND4 as a novel gene linked to severe neurological disease.
  • Disrupted protein folding due to BEND4 mutations may underlie the observed neurodegeneration.

Keywords:
BEND4Cerebellar atrophyInfection-induced acute encephalopathyPontine calcificationPontine cyst

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K
Cerebellar Regional Dissection for Molecular Analysis08:51

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

5.0K

Related Concept Videos

Viral Meningitis01:18

Viral Meningitis

Viral meningitis is the most common form of meningitis and is often referred to as aseptic meningitis to indicate the absence of bacterial involvement. It is generally milder than bacterial meningitis, with symptoms including fever, headache, stiff neck, drowsiness, nausea, photophobia, and vomiting. Rarely, more severe manifestations or death may occur. Common causative agents include enteroviruses, particularly coxsackie A and B viruses and echoviruses, all members of the Enterovirus genus...
Arboviral Encephalitis01:25

Arboviral Encephalitis

Arboviral encephalitis refers to brain inflammation caused by arthropod-borne viruses, particularly those transmitted through mosquito vectors. Among these, West Nile virus (WNV), a member of the Flaviviridae family, is a significant public health concern. WNV is an enveloped, positive-sense, single-stranded RNA virus. Human infection typically begins when an infected mosquito introduces the virus into the dermis during feeding. The primary transmission cycle involves birds as amplifying hosts...
Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Encephalitis ll: Pathophysiology01:26

Encephalitis ll: Pathophysiology

Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
Brain Abscess l: Introduction01:26

Brain Abscess l: Introduction

A brain abscess is a focal, intracerebral infection characterized by a localized collection of pus within the brain parenchyma, resulting from microbial invasion and the body’s inflammatory response. It progresses through stages: early and late cerebritis, followed by early and late capsule formation, reflecting tissue destruction, immune response, and eventual encapsulation.Etiology and PathogenesisCausative organisms vary with source and host factors, often involving polymicrobial infections,...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...