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

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 ­abnorma...

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Published in:Molecular syndromology 2022-02, Vol.13 (1), p.75-79
Main Authors: Murakami, Hiroaki, Uehara, Tomoko, Enomoto, Yumi, Nishimura, Naoto, Kumaki, Tatsuro, Kuroda, Yukiko, Asano, Mizuki, Aida, Noriko, Kosaki, Kenjiro, Kurosawa, Kenji
Format: Article
Language:English
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Novel Insights from Clinical Practice
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Summary: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.
ISSN:1661-8769
1661-8777
DOI:10.1159/000517977