Article
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Cold Spring Harbor molecular case studies - 1 May 2017
Blackburn Patrick R, Barnett Sarah S, Zimmermann Michael T, Cousin Margot A, Kaiwar Charu, Pinto E Vairo Filippo, Niu Zhiyv, Ferber Matthew J, Urrutia Raul A, Selcen Duygu, Klee Eric W, Pichurin Pavel N
Abstract excerpt
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif...
Topics
- Child, Preschool
- DNA
- DNA-Binding Proteins
- Developmental Disabilities
- Exome
- Female
- Humans
- Intellectual Disability
- Language Development Disorders