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J Med Genet. 2007 Apr;44(4):281-4. Epub 2006 Nov 10.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

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.

PMID:
17098887
PMCID:
PMC2598038
DOI:
10.1136/jmg.2006.046425
[Indexed for MEDLINE]
Free PMC Article

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