Genetic analysis of the entire AChR ε-subunit gene in 52 congenital myasthenic families

A. Abicht, R. Stucka, I. H. Song, V. Karcagi, K. Kugler, A. Baumgarten-Walczak, C. Stier, D. Pongratz, W. Mortier, W. Muller-Felber, R. Rudel, H. Lochmuller

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Abstract

Congenital myasthenic syndromes (CMS) are relatively rare inherited disorders arising from various defects of the neuromuscular transmission. The majority of CMS are inherited as autosomal recessive traits due to loss-of- function mutations of the AChR subunit genes or the ColQ-gene. This report summarizes data of the genetic analysis of the entire AChR ε subunit gene in 62 CMS patients from 52 non-related families, carried out in our laboratory. All patients were clinically characterized as sporadic or autosomal recessive CMS. Sequence analysis of the entire AChR ε subunit gene was carried out in all patients. In 27 families (52%) 12 different recessive mutations of the AChR ε subunit gene were identified as the probable causative gene defect. The mutations are distributed along the entire length of the AChR ε subunit gene. We confirm previous findings that a single mutation (ε1267delG) is found frequently in south-eastern European patients (50%). Our findings indicate that genetic analysis of the ε subunit gene may reveal the underlying genetic defect in a fair proportion of patients, clinically classified as sporadic or autosomal recessive CMS.

Original languageEnglish
Pages (from-to)23-27
Number of pages5
JournalActa Myologica
Volume19
Issue numberAPR.
Publication statusPublished - Jan 1 2000

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Keywords

  • Acetylcholine receptor ε-subunit mutation
  • Congenital myasthenic syndrome
  • Neuropediatrics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Abicht, A., Stucka, R., Song, I. H., Karcagi, V., Kugler, K., Baumgarten-Walczak, A., Stier, C., Pongratz, D., Mortier, W., Muller-Felber, W., Rudel, R., & Lochmuller, H. (2000). Genetic analysis of the entire AChR ε-subunit gene in 52 congenital myasthenic families. Acta Myologica, 19(APR.), 23-27.