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Article

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.

Journal of human genetics - 1 Feb 2026

Nishina Sachiko, Torii Kaoruko, Ishitani Shizuka, Yoshida Tomoyo, Fukami Maki, Kurosawa Kenji, Kosaki Kenjiro, Saitsu Hirotomo, Ishitani Tohru, Hotta Yoshihiro

Abstract excerpt

Cyclin-dependent kinase 9 (CDK9) phosphorylates the C-terminal domain of RNA polymerase II (RNAPII) to regulate transcription. Previously, we reported that an 8-year-old boy with the biallelic CDK9 variants p.A288T and p.R303C exhibited a CHARGE-like malformation syndrome in which retinal dystrophy was a distinguishing feature. This dystrophy was caused by the decreased CDK9 kinase activity associated with these...

Read the complete abstract on PubMed

Topics

Humans
Retinal Dystrophies
Female
Cyclin-Dependent Kinase 9
Alleles
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Exome Sequencing

Pedigree

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 40954203
DOI: 10.1038/s10038-025-01395-1
PMCID: PMC12765697

Genes

CDK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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