<it>CDKL5</it> gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
<p>Abstract</p> <p>Background</p> <p>Mutations in the cyclin-dependent kinase-like 5 gene (<it>CDKL5</it>) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first po...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2012-08-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | <p>Abstract</p> <p>Background</p> <p>Mutations in the cyclin-dependent kinase-like 5 gene (<it>CDKL5</it>) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.</p> <p>Methods</p> <p>We performed mutation screening of <it>CDKL5</it> in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (<it>MECP2</it>) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the <it>CDKL5</it> gene and their neighbouring sequences were examined, and <it>CDKL5</it> rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA).</p> <p>Results</p> <p>Six previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life.</p> <p>Conclusions</p> <p>This study demonstrated the importance of <it>CDKL5</it> mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the <it>CDKL5</it> gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.</p> |
|---|---|
| Item Description: | 10.1186/1471-2350-13-68 1471-2350 |