Open AccessPersistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
Author(s) -
Hiroaki Murakami,
Tomoko Uehara,
Yumi Enomoto,
Naoto Nishimura,
Tatsuro Kumaki,
Yukiko Kuroda,
Mizuki Asano,
Noriko Aida,
Kenjiro Kosaki,
Kenji Kurosawa
Publication year - 2021
Publication title -
molecular syndromology (print)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000517977
Subject(s) - microphthalmia , coloboma , medicine , ectodermal dysplasia , neurodevelopmental disorder , genetic disorder , congenital disorder , nonsense mutation , nonsense , pediatrics , pathology , dermatology , ophthalmology , genetics , autism , disease , missense mutation , mutation , biology , surgery , psychiatry , gene
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.