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

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

研究成果: Article査読

抄録

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 previously reported patient with homozygous CDK9 variants. The ocular phenotype included blepharophimosis, lacrimal duct obstruction, eyelid dermoids, Duane syndrome-like abduction deficit, and congenital cataracts. Optical coherence tomography and electroretinography evaluations revealed severe retinal dystrophy had developed at an early age. Trio-based whole-exome sequencing identified compound heterozygous variants in CDK9 [p.(A288T) of maternal origin and p.(R303C) of paternal origin] in the patient. Variants’ kinase activities were reduced compared with wild type. We concluded that CDK9 biallelic variants cause a CHARGE-like malformation syndrome with retinal dystrophy as a distinguishing feature.

本文言語English
ページ(範囲)1021-1027
ページ数7
ジャーナルJournal of Human Genetics
66
10
DOI
出版ステータスPublished - 2021 10

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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