Article
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Human mutation - 1 May 2020
Yates Thabo M, Drucker Morgan, Barnicoat Angela, Low Karen, Gerkes Erica H, Fry Andrew E, Parker Michael J, O'Driscoll Mary, Charles Perrine, Cox Helen, Marey Isabelle, Keren Boris, Rinne Tuula, McEntagart Meriel, Ramachandran Vijaya, Drury Suzanne, Vansenne Fleur, Sival Deborah A, Herkert Johanna C, Callewaert Bert, Tan Wen-Hann, Balasubramanian Meena
Abstract excerpt
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not been fully defined. Here, we present 16 additional patients with predicted pathogenic heterozygous variants in...
Topics
- Alleles
- Cell Cycle Proteins
- Child
- Child, Preschool
- Co-Repressor Proteins
- DNA-Binding Proteins
- Facies
- Female
- Genetic Association Studies