Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

ABSTRACT:

Background

The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum AFP levels. AOA2 is caused by mutations within the senataxin gene (SETX). The majority of known mutations are nonsense, missense, and splice site mutations, as well as small deletions and insertions.

Methods

To detect mutations in patients showing a clinical phenotype consistent with AOA2, the coding region including splice sites of the SETX gene was sequenced and dosage analyses for all exons were performed on genomic DNA. The sequence of cDNA fragments of alternative transcripts isolated after RT-PCR

SUBMITTER: Bernard V 

PROVIDER: S-EPMC2749023 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature