Targeted gene(s)/phenotype under study
Gene: CHD8 (MIM *610528)
Abstract
Variants in the chromodomain helicase DNA-binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and overgrowth. We previously investigated 25 individuals with CHD8 protein-truncating variants (PTVs) and showed that CHD8 haploinsufficiency is associated with a distinctive OGID syndrome with pronounced autistic traits [see PMID: 31001818]. We are collecting patients with:
(1) missense CHD8 VOUS and
(2) <1Mb gain CNV including the entire CHD8 gene
To explore further a possible genotype-phenotype correlation
Coordinating clinicians/researchers
Sofia Douzgou Houge
Contact: sofia.douzgou.houge@helse-bergen.no
Institution
Department of Medical Genetics
Haukeland University Hospital
Bergen, Norway
Collaborating clinician
Siddharth Banka
Institution
Manchester Centre for Genomic Medicine
Saint Marys Hospital
Manchester, UK
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: Yes, methylation profiling of pathogenic missense variants
- Resampling of patients: No
- Linked to a translational/basic research project? No