NDLI: Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

Content Provider	Springer Nature Link
Author	Moulard, Bru Genton, Pierre Grid, Djamel Jeanpierre, Marc Ouazzani, Réda Mrabet, Amel Morris, Mike LeGuern, Eric Dravet, Charlotte Mauguière, François Utermann, Barbara Baldy Moulinier, Michel Belaidi, Halima Bertran, Françoise Biraben, Arnaud Ali Chérif, André Chkili, Taieb Crespel, Arielle Darcel, Françoise Dulac, Olivier Geny, Christian Humbert Claude, Véronique Kassiotis, Philippe Buresi, Catherine Malafosse, Alain
Copyright Year	2002
Abstract	Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight markers flanking CSTB (GT10-D21S1890-D21S1885-D21S2040-D21S1259-CSTB-D21S1912-PFKL-D21S171) and one intragenic variant in the CSTB 3′ UTR (A2575G). We observed a founder effect in most of the NA ULD patients, as 61.7% of the NA ULDc (29/47) shared the same haplotype, A1 (1-1-A-1-6-7), for markers D21S1885-D21S2040-A2575G-D21S1259-D21S1912-PFKL. Moreover, if we considered only the markers D21S1885, D21S2040, A2575G and D21S1259, 43 of the 47 NA ULDc shared the same alleles 1-1-A-1, haplotype A. As previously shown, the WEC ULDc were heterogeneous. However, the Baltic haplotype, A3 (5-1-1-A-1-1), was observed in ten WEC ULDc (20.8%) and the CSTB 3′UTR variant, which we called the Alps variant, was observed in 17 ULDc (35.4%). Finally, as almost all NA patients, like Scandinavian patients, were of the haplotype A, we assumed that there was an ancient common founder effect in NA and Baltic ULD patients. We estimated that the putative most recent common ancestral ULD carrier with this haplotype A must have existed about 2,500 years ago (100–150 generations). Finally, this work provides evidence for the existence of only a small number of founder mutations in ULD.
Starting Page	255
Ending Page	262
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	111
Issue Number	3
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2002-07-23
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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