Format

Send to

Choose Destination
Genet Med. 2011 May;13(5):447-52. doi: 10.1097/GIM.0b013e31820605f5.

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Author information

1
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

Abstract

PURPOSE:

Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype. We attempted to assess the role of mosaic intragenic copy number variation in CDKL5.

METHODS:

We have used comparative genomic hybridization with a custom-designed clinical oligonucleotide array targeting exons of selected disease and candidate genes, including CDKL5.

RESULTS:

We have identified mosaic exonic deletions of CDKL5 in one male and two females with developmental delay and medically intractable seizures. These three mosaic changes represent 60% of all deletions detected in 12,000 patients analyzed by array comparative genomic hybridization and involving the exonic portion of CDKL5.

CONCLUSION:

We report the first case of an exonic deletion of CDKL5 in a male and emphasize the importance of underappreciated mosaic exonic copy number variation in patients with early-onset seizures and RTT-like features of both genders.

PMID:
21293276
DOI:
10.1097/GIM.0b013e31820605f5
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center