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. 2024 Nov 8;11(1):40.
doi: 10.1038/s41439-024-00296-7.

A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication

Takato Akiba #  1   2 , Shino Shimada #  1   2   3 , Katsumi Imai  4 , Satoru Takahashi  5
Affiliations

A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication

Takato Akiba et al. Hum Genome Var. .

Abstract

We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This duplication was assumed to result in a shift of the reading frame and the introduction of a premature stop codon. This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Details of the genetic analysis results.
A Duplication in CDKL5 exons 9–16 detected by multiple ligation-dependent probe amplification. B Using forward and reverse primers, we detected tandem duplication of CDKL5 exons 9–16. We also confirmed that the end of exon 16 and the beginning of exon 9 were connected without any deletion. ex, exon; F, forward primer; R, reverse primer.
See this image and copyright information in PMC

References

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    1. Takahashi, S. et al. CDKL5 deficiency causes epileptic seizure independent of cellular mosaicism. J. Neurol. Sci.443, 120498 (2022). - PubMed

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