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Article

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

Journal of human genetics - 1 Oct 2021

Nishina Sachiko, Hosono Katsuhiro, Ishitani Shizuka, Kosaki Kenjiro, Yokoi Tadashi, Yoshida Tomoyo, Tomita Kaoru, Fukami Maki, Saitsu Hirotomo, Ogata Tsutomu, Ishitani Tohru, Hotta Yoshihiro, Azuma Noriyuki

Abstract excerpt

CDK9 has been considered a candidate gene involved in the CHARGE-like syndrome in a pair of cousins. We report an 8-year-old boy with a strikingly similar phenotype including facial asymmetry, microtia with preauricular tags and bilateral hearing loss, cleft lip and palate, cardiac dysrhythmia, and undescended testes. Joint contracture, no finger flexion creases, and large halluces were the same as those of a...

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Blepharophimosis
CHARGE Syndrome
Cleft Lip
Cleft Palate
Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exome Sequencing

Retinal Dystrophies

Tomography, Optical Coherence

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Identifiers

PMID: 33640901
DOI: 10.1038/s10038-021-00909-x
PMCID: PMC8472910

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