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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
Neurology, Volume 71, No. 24, Year 2008
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Description
Objective:: Mutations in various genes of the neuromuscular junction cause congenital myasthenic syndrome (CMS). A single truncating mutation (ϵ1293insG) in the acetylcholine receptor epsilon subunit gene (CHRNE) was most often identified in CMS families originating from North Africa and was possibly a founder mutation. Methods:: Twenty-three families were studied with an early onset form of CMS and originating from Tunisia, Algeria, Morocco, and Libya. Screening for the mutation ϵ1293insG was performed by direct sequencing. Haplotype analysis was done with 9 (CA)n repeat microsatellite markers and 6 SNPs flanking ϵ1293insG on chromosome 17p13-p12. Dating was calculated using the ESTIAGE method for rare genetic diseases. Results:: The ϵ1293insG mutation was identified in 14 families (about 60% of the initial 23). The expression of the CMS in affected members of these families was relatively homogeneous, without fetal involvement or being life-threatening, with moderate hypotonia and oculobulbar involvement, mild and stable disease course, and good response to cholinesterase inhibitors. Haplotype analysis revealed a common conserved haplotype encompassing a distance of 63 kb. The estimated age of the founder event was at least 700 years. Conclusions:: These results strongly support the hypothesis that ϵ1293insG derives from an ancient single founder event in the North African population. Identification of founder mutations in isolated or inbred populations may have important implications in the context of molecular diagnosis and genetic counseling of patients and families by detection of heterozygous carriers. Copyright © 2008 AAN Enterprises, Inc.
Authors & Co-Authors
Richard, Pascale
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Inserm
France, Paris
Sorbonne Université
Gaudon, Karen
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Inserm
France, Paris
Sorbonne Université
Haddad, Hafedh
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Ammar, A. Ben
France, Paris
Inserm
France, Paris
Sorbonne Université
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Tunisia, Tunis
Université de Tunis el Manar
Geńin, Emmanuelle
France, Villejuif
Hopital Paul-brousse
Bauché, Stéphanie
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Paturneau-Jouas, M.
France, Paris
Inserm
France, Paris
Sorbonne Université
Müller, Juliane S.
United Kingdom, Newcastle
Newcastle University
Lochmüller, Hanns
United Kingdom, Newcastle
Newcastle University
Grid, Djamel
France, Evry
Généthon
Hamri, Abdelmadjid
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Nouioua, Sonia
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Mayer, Michèle
France, Paris
Hopital Saint-vincent-de-paul
Desnuelle, Claude
France, Nice
Centre Hospitalier Universitaire de Nice, Hôpital L'archet
Barois, Annie
France, Garches
Hopital Raymond Poincare
Chabrol, Brigitte
France, Marseille
Hopital la Timone
Pouget, Jean Yves
France, Marseille
Hopital la Timone
Koenig, Jeanine
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Bordeaux
Université de Bordeaux
Gouider-Khouja, Neziha
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Tunisia, Tunis
Université de Tunis el Manar
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Tunisia, Tunis
Université de Tunis el Manar
Eymard, Bruno
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Hantaï, Daniel
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Statistics
Citations: 29
Authors: 23
Affiliations: 16
Identifiers
Doi:
10.1212/01.wnl.0000336921.51639.0b
ISSN:
00283878
e-ISSN:
1526632X
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Multi-countries
Algeria
Libya
Morocco
Tunisia