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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.
Ann Hum Genet. 2008 Sep; 72(Pt 5):590-7.AH

Abstract

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).

Authors+Show Affiliations

INSERM UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Université de La Méditerranée, Faculté de Médecine Timone, Marseille, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18549403

Citation

Hamadouche, T, et al. "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, vol. 72, no. Pt 5, 2008, pp. 590-7.
Hamadouche T, Poitelon Y, Genin E, et al. 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. Ann Hum Genet. 2008;72(Pt 5):590-7.
Hamadouche, T., Poitelon, Y., Genin, E., Chaouch, M., Tazir, M., Kassouri, N., Nouioua, S., Chaouch, A., Boccaccio, I., Benhassine, T., De Sandre-Giovannoli, A., Grid, D., Lévy, N., & Delague, V. (2008). 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, 72(Pt 5), 590-7. https://doi.org/10.1111/j.1469-1809.2008.00456.x
Hamadouche T, et al. 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. Ann Hum Genet. 2008;72(Pt 5):590-7. PubMed PMID: 18549403.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Hamadouche,T, AU - Poitelon,Y, AU - Genin,E, AU - Chaouch,M, AU - Tazir,M, AU - Kassouri,N, AU - Nouioua,S, AU - Chaouch,A, AU - Boccaccio,I, AU - Benhassine,T, AU - De Sandre-Giovannoli,A, AU - Grid,D, AU - Lévy,N, AU - Delague,V, Y1 - 2008/06/06/ PY - 2008/6/14/pubmed PY - 2008/11/14/medline PY - 2008/6/14/entrez SP - 590 EP - 7 JF - Annals of human genetics JO - Ann. Hum. Genet. VL - 72 IS - Pt 5 N2 - 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). SN - 0003-4800 UR - https://www.unboundmedicine.com/medline/citation/18549403/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_ L2 - https://doi.org/10.1111/j.1469-1809.2008.00456.x DB - PRIME DP - Unbound Medicine ER -