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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa
Annals of Human Genetics, Volume 72, No. 5, Year 2008
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Description
CMT2B1, an axonal subtype (MIM 605588) of the Charcot-Marie-Tooth disease, is an autosomal recessive motor and sensory neuropathy characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness. The genetic defect associated with the disease is, to date, a unique homozygous missense mutation, p.Arg298Cys (c.892C>T), in the LMNA gene. So far, this mutation has only been found in affected individuals originating from a restricted region of North Western Africa (northwest of Algeria and east of Morocco), strongly suggesting a founder effect. In order to address this hypothesis, genotyping of both STRs and intragenic SNPs was performed at the LMNA locus, at chromosome 1q21.2-q21.3, in 42 individuals affected with CMT2B1 from 25 Algerian families. Our results indicate that the affected individuals share a common ancestral haplotype in a region of about 1.0 Mb (1 cM) and that the most recent common ancestor would have lived about 800-900 years ago (95% confidence interval: 550 to 1300 years). © 2008 The Authors Journal compilation © 2008 Blackwell Publishing Ltd/University College London.
Authors & Co-Authors
Hamadouche, Tarik
France, Marseille
Aix Marseille Université
Algeria, Algiers
Institut Pasteur - Alger
Poitelon, Yannick
France, Marseille
Aix Marseille Université
Geńin, Emmanuelle
France, Paris
Inserm
Chaouch, Malika
Algeria, Algiers
Centre Hospitalier Universitaire Ben Aknoun
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Kassouri, Nadia
Algeria, Algiers
Centre Hospitalier Universitaire Ben Aknoun
Nouioua, Sonia
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Chaouch, Athmane
Algeria, Algiers
Centre Hospitalier Universitaire Ben Aknoun
Boccaccio, I.
France, Marseille
Aix Marseille Université
Benhassine, Traki
Algeria, Algiers
Institut Pasteur - Alger
de Sandre-Giovannoli, Annachiara
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Grid, Djamel
France, Evry
Généthon
Lévy, Nicolas
France, Marseille
Aix Marseille Université
France, Marseille
Hopital la Timone
Delague, Valeŕie
France, Marseille
Aix Marseille Université
Statistics
Citations: 29
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1111/j.1469-1809.2008.00456.x
e-ISSN:
14691809
Research Areas
Cancer
Genetics And Genomics
Study Locations
Algeria
Morocco