Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Proukakis, C; Auer-Grumbach, M; Wagner, K; Wilkinson, PA; Reid, E; Patton, MA; Warner, TT; Crosby, AH.
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Hum Mutat. 2003; 21(2): 170-170.
Doi: 10.1002/humu.9108
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
- Co-Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Wagner Klaus
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austria, 30 of whom displayed AD inheritance, was screened for mutations in SPG4 by single strand conformation polymorphism (SSCP) analysis followed by sequencing of samples with mobility shifts. We identified eight SPG4 mutations in pure AD HSP patients, seven of which were novel: one missense mutation within the AAA cassette (1633G>T), two splice site mutations (1130-1G>T, 1853+2T>A) and four frameshift mutations (190_208dup19, 1259_1260delGT, 1702_1705delGAAG, 1845delG). A novel duplication in intron 11 (1538+42_45dupTATA) was also detected. We report the HUGO-approved nomenclature of these mutations as well. Furthermore, we detected a silent change (1004G>A; P293P), previously reported as a mutation, which was also present in controls. The frequency of SPG4 mutations detected in pure AD HSP was 33.3%, suggesting that screening of such patients for SPG4 mutations is worthwhile. Most patients will have unique mutations. Screening of SPG4 in apparently isolated cases of HSP may be of less value.
- Find related publications in this database (using NLM MeSH Indexing)
- Adenosine Triphosphatases - genetics
- Exons - genetics
- Gene Duplication - genetics
- Genetic Screening - methods
- Humans - methods
- Introns - genetics
- Leukocytes - chemistry
- Mutation - genetics
- Spastic Paraplegia, Hereditary - genetics
- Find related publications in this database (Keywords)
- Hereditary spastic paraplegia
- HSP
- SPG4
- spastin
- SSCP
- mutation screening