Exploring Phenotypic and Neurocognitive Profiles in BCL11B Gene Mutations: A Case Study of a Family with Three Siblings

BCL11B is a transcription factor gene that encodes a zinc finger domain, which is thought to play an important role in DNA binding, that is critical to the development of the nervous and immune system. Mutations in this gene are rare in the general population but associated with a range of neurodevelopmental abnormalities, intellectual disability, craniofacial dysmorphology, movement disorders, atopic disorders, and immune deficiencies. Most mutations in BCL11B arise de novo, with missense mutations often leading to the most severe neurodevelopmental defects. The findings of this poster aim to summarize current literature and to expand understanding regarding the phenotypic and neurodevelopmental abnormalities associated with mutations in the BCL11B gene.

Creator

• Medernach, Kevin
• Chapman, L.
• Thibodaux, L.
• Curtin, Michelle

Mitwirkende

• Wake Forest University School of Medicine

Language

• English

Stichwort

• BCL11B
• transcription factor gene
• DNA binding
• gene mutations
• neurodevelopmental defects
• phenotypic defects

Date created

• 2023

Resource type

• Poster

Rights statement

• http://rightsstatements.org/vocab/InC/1.0/