caa a22 4500 397574169 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.2019 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.2019 A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India [Elektronische Daten] [F. Piccolo, M. Jeanpierre, F. Leturcq, C. Dodé, K. Azibi, A. Toutain, L. Merlini, L. Jarre, C. Navarro, R. Krishnamoorthy, F. M. S. Tomé, J. A. Urtizberea, J. S. Beckmann, K. P. Campbell, J.-C. Kaplan] We investigated the molecular basis of a severe form of early onset autosomal recessive muscular dystrophy with sarcoglycan (SG) deficiency in seven large Gypsy families living in different parts of Western Europe and apparently not closely related. They were linked to the LGMD2C locus (13q12) suggesting a primary defect in the γ-SG gene coding for the 35 kDa dystrophinassociated glycoprotein. All of the 18 investigated patients were homozygous for the same G→A transition in codon 283 producing the replacement of a conserved cysteine of the extra-cellular domain of the protein by a tyrosine. All affected chromosomes in homozygous and heterozygous relatives carried the same allele 5 of the intragenic marker D13S232. Flanking markers were studied to delineate a common ancestral haplotype, the size of which was used to compute the date of the founding mutation. We found evidence that the mutation occurred between 60 and 200 generations ago, therefore possibly predating the commonly accepted date of migration of the Gypsy ancestors out of India. © 1993 Oxford University Press Piccolo F. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut Jeanpierre M. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut Leturcq F. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut Dodé C. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut Azibi K. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut Toutain A. CHU Tours, France aut Merlini L. Istituto Ortopedico Rizzoli, Bologna, Italy aut Jarre L. Osp. Regina Margherita, Torino, Italy aut Navarro C. Hospital do Meixoeiro, Vigo, Spain aut Krishnamoorthy R. INSERM 120, Paris, France aut Tomé F. M. S. INSERM 153, Paris, France aut Urtizberea J. A. AFM, 13 place de Rungis, Paris, France aut Beckmann J. S. Généthon, Evry, France aut Campbell K. P. University of Iowa, College of Medicine, Iowa City, IA, USA aut Kaplan J.-C INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 2019-2022 0964-6906 5:12<2019 1996 5 hmg https://doi.org/10.1093/hmg/5.12.2019 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.2019 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Piccolo F. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut NATIONALLICENCE 700 1- Jeanpierre M. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut NATIONALLICENCE 700 1- Leturcq F. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut NATIONALLICENCE 700 1- Dodé C. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut NATIONALLICENCE 700 1- Azibi K. INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut NATIONALLICENCE 700 1- Toutain A. CHU Tours, France aut NATIONALLICENCE 700 1- Merlini L. Istituto Ortopedico Rizzoli, Bologna, Italy aut NATIONALLICENCE 700 1- Jarre L. Osp. Regina Margherita, Torino, Italy aut NATIONALLICENCE 700 1- Navarro C. Hospital do Meixoeiro, Vigo, Spain aut NATIONALLICENCE 700 1- Krishnamoorthy R. INSERM 120, Paris, France aut NATIONALLICENCE 700 1- Tomé F. M. S. INSERM 153, Paris, France aut NATIONALLICENCE 700 1- Urtizberea J. A. AFM, 13 place de Rungis, Paris, France aut NATIONALLICENCE 700 1- Beckmann J. S. Généthon, Evry, France aut NATIONALLICENCE 700 1- Campbell K. P. University of Iowa, College of Medicine, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Kaplan J.-C INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 2019-2022 0964-6906 5:12<2019 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford