| | |  | | | | Record from Web of Science® | | | | | | |
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy |
|
|
| Author(s): Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE |
| Source: NATURE Volume: 386 Issue: 6627 Pages: 847-851 Published: APR 24 1997 |
| Times Cited: 162 References: 30 |
| Abstract: Progressive myaclonus epilepsy of the Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder with onset between 6 and 13 years followed by variable progression to mental deterioration and cerebellar ataxia(1). It is a rare disorder but more common in Finland (1 in 20,000) and the western Mediterranean(1,2). Two point mutations in the cysteine proteinase inhibitor gene cystatin B (CSTB), proved that this gene is responsible for EPM1 (ref. 3). An extensive search in the CSTB gene revealed mutations accounting only for 14% of the 58 unrelated EPM1 alleles studied(4). Here we report that the majority of EPM1 alleles contain expansions of a dodecamer (12-mer) repeat located about 70 nucleotides upstream of the transcription start site nearest to the 5' end of the CSTB gene. Normal alleles contain 2 or 3 copies of this repeat whereas mutant alleles contain more than 60 such repeats and have reduced levels of CSTB messenger RNA in brood but not in cell lines. 'Premutation' CSTB alleles with 12-17 repeats show marked instability when transmitted to off-spring. |
| Document Type: Article |
| Language: English |
Addresses:
1. HOSP BELLE IDEE, DEPT GENET & MICROBIOL, LAB HUMAN MOL GENET, CH-1211 GENEVA, SWITZERLAND
2. UNIV GENEVA, SCH MED, CH-1211 GENEVA 4, SWITZERLAND
3. CANTONAL HOSP GENEVA, CH-1211 GENEVA, SWITZERLAND
4. HOSP BELLE IDEE, DIV NEUROPSYCHIAT, CH-1211 GENEVA, SWITZERLAND |
| Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: WV706 |
| ISSN: 0028-0836 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |