Human Molecular Genetics, Vol 5, 2019-2022, Copyright © 1996 by Oxford University Press
F Piccolo, M Jeanpierre, F Leturcq, C Dode, K Azibi, A Toutain, L Merlini, L Jarre, C Navarro, R Krishnamoorthy, FM Tome, JA Urtizberea, JS Beckmann, KP Campbell and JC 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 gamma-SG gene coding for the 35
kDa dystrophin-associated 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.
ARTICLES
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
INSERM 129, Hopital Cochin, Paris, France.
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