Article
Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.
HGG advances - 9 Jul 2026
Acharya Anushree, Järvelä Irma, Hernandez Andrea, Rajendran Yasmin, Bharadwaj Thashi, Goodloe Dana H, Hiatt Susan M, Morrison Jennifer, Wheeler Patricia G, Hunter Jesse M, Supinger Rachel, Hickey Scott E, Petersen Andrea K, Magnussen Kari, Scala Marcello, Striano Pasquale, Zara Federico, Leppälä Juha, Leal Suzanne M, Schrauwen Isabelle
Abstract excerpt
The CECR2 histone acetyl-lysine reader facilitates chromatin remodeling and plays a significant role in neurodevelopment. It resides within the cat eye syndrome (CES) critical region at 22q11.1q11.21. An increased copy number of this region, often as tetrasomy or a supernumerary chromosome, results in CES. The complex chromosomal arrangements and phenotypic variability have hampered the identification of the true...
Topics
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Chromosome Disorders
- Corneal Opacity
- Heterozygote
- Mutation