Article Figures & Data
Figures
- Figure 1 Distribution of exonic CDKL5 variants
A cartoon of the gene structure is given at the top, with exons of hCDKL5_1, the dominant brain transcript isoform, colored blue-green (coding regions) and black (UTRs). Introns are not drawn to scale. In the diagram beneath, variant types are grouped together, and individual variants are plotted according to their location in the gene. Red indicates pathogenic or likely pathogenic variants; green indicates benign or likely benign variants; and amber indicates variants of uncertain significance.
- Figure 2 Pathogenic CDKL5 missense variants cluster in the catalytic domain
Functional domains in the CDKL5 protein are color coded. Numbers refer to the positions of amino acids. Variants in red (upper) are pathogenic or likely pathogenic. Variants in black (lower) are benign or likely benign. aVariant with a splicing consequence. bVariant of uncertain significance. NES = putative nuclear export signal; NLS = putative nuclear localization signal; ST = serine-threonine kinase active site; TEY = conserved Thr-Glu-Tyr motif.
- Figure 3 CDKL5 variant c.2152G>A causes skipping of exon 14 in HEK293T cells
(A) Schematic representation of the minigene constructs used in the in vitro splicing assay (not to scale). The pET01 vector contains 5′ and 3′ exons separated by an intron sequence. Minigenes contain wild-type (wt) or mutant (mut; c.2152G>A) CDKL5 exon 14 sequences flanked by portions of their natural introns (thick lines). Primers used for RT-PCR experiments are indicated by arrows. Splicing events, indicated by dashed lines, would result in a 348-bp or a 242-bp product depending on inclusion or otherwise of CDKL5 exon 14. (B) Agarose gel showing RT-PCR results from the splicing assay using pET01 vector and minigenes of wild-type or mutated CDKL5 exon 14. Upper bands (348 bp) indicate the presence of exon 14, whereas lower bands (242 bp) indicate exclusion of exon 14. Marker indicates 100 bp ladder; −RT indicates a negative control without reverse transcriptase.
Tables
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
