CDKL5 variants: Improving our understanding of a rare neurologic disorder.

ABSTRACT:

Objective

To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene.

Methods

We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity.

Results

The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported

SUBMITTER: Hector RD 

PROVIDER: S-EPMC5732004 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature