Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.

PloS one - 1 Jan 2014

Delacour Herve, Lushchekina Sofya, Mabboux Isabelle, Bousquet Aurore, Ceppa Franck, Schopfer Lawrence M, Lockridge Oksana, Masson Patrick

Abstract excerpt

Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene. Here, we report a case of prolonged neuromuscular block after administration of suxamethonium leading to the discovery of a novel BCHE variant (c.695T>A, p.Val204Asp). Inhibition studies, kinetic analysis and molecular dynamics were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apnea
Share to Biocatalysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Butyrylcholinesterase

Share to Family Health

Share to Isoquinolines

Share to Molecular Dynamics Simulation

Share to Mutation, Missense

Share to Succinylcholine

Source

Open in PubMed Open full text

Identifiers

PMID: 25054547
DOI: 10.1371/journal.pone.0101552
PMCID: PMC4108472

Genes

BCHE
BTC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.PMID 25054547Read ↗

Characterization of four BCHE mutations associated with prolonged effect of suxamethonium.Semantic proximity Read ↗

Understanding the non-catalytic behavior of human butyrylcholinesterase silent variants: Comparison of wild-type enzyme, catalytically active Ala328Cys mutant, and silent Ala328Asp variant.Semantic proximity Read ↗

Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.Semantic proximity Read ↗

A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.Semantic proximity Read ↗

Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.Semantic proximity Read ↗

Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.Semantic proximity Read ↗

Analysis of mutations in the plasma cholinesterase gene of patients with a history of prolonged neuromuscular block during anesthesia.Semantic proximity Read ↗

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.Semantic proximity Read ↗

Genotype-phenotype relationships in butyrylcholinesterase deficiency: a systematic review.Semantic proximity Read ↗

Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene.Semantic proximity Read ↗

Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing.Semantic proximity Read ↗

Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.