CHRNE Antibody (OAEB02535)
- Known as:
- CHRNE Antibody (OAEB02535)
- Catalog number:
- oaeb02535
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- CHRNE Antibody (OAEB02535)
Related genes to: CHRNE Antibody (OAEB02535)
- Gene:
- CHRNE NIH gene
- Name:
- cholinergic receptor nicotinic epsilon subunit
- Previous symbol:
- -
- Synonyms:
- ACHRE
- Chromosome:
- 17p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-23
- Date modifiied:
- 2019-04-23
Related products to: CHRNE Antibody (OAEB02535)
Related articles to: CHRNE Antibody (OAEB02535)
- Congenital myasthenic syndromes (CMS) are rare genetic disorders caused by pathogenic variants in proteins expressed at the neuromuscular junction. Current literature surrounding adult CMS patients remains limited, primarily derived from Western cohorts. - Source: PubMed
Publication date: 2026/07/17
Hoe Rebecca Hui MinKoh Jasmine ShiminSaini MonicaPrasad KalpanaChan Yee CheunNg Peng SoonHuei Josiah Chai YuiChong Li JieTay Karine Su ShanChen Zhiyong - The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic-associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed. It is mutations in the genes encoding neuromuscular junction proteins AChR, RAPSN, and DOK7 that underlie most cases. Appreciation of key phenotypic features that distinguish between AChR deficiency due to mutations in CHRNE, AChR deficiency due to mutations in RAPSN, and the "limb girdle" myasthenic syndrome due to mutations in DOK7 can facilitate early diagnosis. While severity for each of these conditions is markedly variable and thus there are exceptions to the rule, the CHRNE mutations result in stable generalized fatigable weakness with marked ophthalmoparesis, RAPSN mutations often result in respiratory crises in neonates or early childhood that tend to resolve with age, and DOK7 mutations cause a limb girdle myasthenic pattern of weakness that may present at birth or shortly after the walking motor milestone is achieved, is slowly progressive but responds well to treatment. The differences and time course for these phenotypes may be explained by the underlying molecular mechanisms. For the CHRNE mutations, patients at least partially function on the fetal form of the AChR; for RAPSN mutations, AChR clustering on the postsynaptic membrane is destabilized; and for DOK7 mutations, the stability of endplate structures is affected. Each of these disorders responds to treatments that can be life-transforming and so early recognition is key. - Source: PubMed
Publication date: 2026/07/01
Beeson David - Congenital myasthenic syndrome (CMS) is a rare hereditary disorder of the neuromuscular junction caused by pathogenic variants that affect acetylcholine transmission. We report three pediatric cases with CMS, including a rare homozygous CHRNE mutation previously described only once, a novel CHRNE compound heterozygous variant, and two novel DPAGT1 variants associated with limb-girdle CMS (LG-CMS), thereby expanding the known genetic and phenotypic spectrum of the disorder. The first patient, a 4-year-old girl born to consanguineous parents, presented with bilateral ptosis and fatigable weakness since infancy. Whole-genome sequencing revealed a homozygous CHRNE variant, c.991C>T. The second patient, a 4-year-old boy born to non-consanguineous parents, presented with congenital bilateral ptosis and ophthalmoplegia without generalized weakness. Genetic analysis identified compound heterozygous CHRNE variants, c.905C>G and c.1040T>C. Both patients demonstrated marked improvement with pyridostigmine therapy. The third patient, a 3-year-old girl born to non-consanguineous parents, presented with severe limb weakness requiring assistance in walking and performing daily activities with minimal ocular involvement, suggesting a diagnosis of LG-CMS. Genetic testing identified two novel variants in the DPAGT1 gene in the compound heterozygous form, c.710G>T and c.858C>A. The initial response to pyridostigmine diminished over time. These cases underscore the phenotypic heterogeneity of CMS, even within the same genetic subtype, and expand the existing mutational spectrum of CHRNE and DPAGT1 genes. This study also highlights the essential role of molecular diagnosis in distinguishing CMS from other neuromuscular disorders. Early genetic confirmation facilitates genotype-targeted therapy, prevents inappropriate immunosuppression, and enables informed reproductive counseling. - Source: PubMed
Publication date: 2026/05/25
Ewida AyaAl-Qaimari DimaShah UbaidSudarsan Nikil - - Source: PubMed
Publication date: 2026/04/20
León-Ruiz MoisésGhosh RitwikDubey SouvikCastañeda-Cabrero CarlosBenito-León Julián - - Source: PubMed
Publication date: 2026/03/30
León-Ruiz MoisésGhosh RitwikDubey SouvikCastañeda-Cabrero CarlosBenito-León Julián