Gene/phenotype/disorder under study
ACTL6A OMIM #604958
Abstract
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder caused by heterozygous aberrations in the BRG1/BRM associated factor (BAF) chromatin remodelling complex. However, due to a lack of clinical and in vitro evidence, coupled with complex inheritance in a primarily de novo condition, there is uncertainty surrounding the role of BAF subunit Actin-like 6A (ACTL6A) in CSS. To address this, we are seeking to further understand the clinical and molecular aspects of individuals with CSS-like phenotypes and either de novo or inherited variants in ACTL6A. In addition to generating this case series, in vitro analyses using reporter cells and iPSCs will be conducted to investigate causality and mechanism of variant ACTL6A in CSS. Our research aim is to elucidate the genotypic and phenotypic spectrum of ACTL6A in CSS and help contribute to definitive diagnoses for individuals with ACTL6A-related CSS.
Coordinating clinicians
Ria Knoef (PhD student) – knori093@student.otago.ac.nz
Professor Louise Bicknell (Principal Investigator) – louise.bicknell@otago.ac.nz
Dr Jessica Haydon-Clarke (Clinical Geneticist)
Institutions
Department of Biochemistry, University of Otago, Dunedin, New Zealand
Genetic Health Service New Zealand, South Island Hub
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes