Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome

Hiroaki Murakami, Tomoko Uehara, Yumi Enomoto, Naoto Nishimura, Tatsuro Kumaki, Yukiko Kuroda, Mizuki Asano, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa

Research output: Contribution to journalArticlepeer-review

Abstract

Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1, which encodes the alpha 1 catalytic subunit of -casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic -abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in CSNK2A1, NM_001895.3:c.319C>T (p.Arg107∗). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalMolecular Syndromology
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • Coloboma
  • Csnk2a1
  • Microphthalmia
  • Okur-chung neurodevelopmental syndrome
  • Persistent hyperplastic primary vitreous

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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