Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
J Med Genet
; 44(4): 281-4, 2007 Apr.
Article
em En
| MEDLINE
| ID: mdl-17098887
ABSTRACT
BACKGROUND:
Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions.METHODS:
121 mutation-negative probands were screened for rearrangements in SPG4 by multiplex ligation-dependent probe amplification.RESULTS:
24 patients with 16 different heterozygotic exon deletions in SPG4 (20%) were identified, ranging from one exon to the whole coding sequence. Comparison with 78 patients with point mutations showed a similar clinical picture but an earlier age at onset.CONCLUSIONS:
Exon deletions in SPG4 are as frequent as point mutations, and SPG4 is responsible for 40% of AD-HSP.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paraplegia Espástica Hereditária
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Éxons
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Adenosina Trifosfatases
Limite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2007
Tipo de documento:
Article