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

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.

SUBMITTER: Akiba T 

PROVIDER: S-EPMC11544015 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature