Gene/phenotype/disorder under study
DICER1 (OMIM # 606241)
Abstract
DICER1 germline variants are associated with DICER1-related tumor predisposition. While some cases of co-occurring developmental delay (DD) have been described, DD is a rare, poorly characterized phenotype with uncertain association to DICER1. Recent inquiries related to de novo DICER1 variants (typically VUS) identified in children with DD and/or autism and no other explanatory genetic findings prompted us to start a collaborative research effort to better understand this phenotype. We have identified a handful of compelling cases, mostly with de novo variants impacting codon R1060. We are seeking additional individuals with otherwise unexplained DD and suspicious germline variation in DICER1 (pathogenic or VUS), especially in codon R1060. Patients not already enrolled in an IRB-approved research study are encouraged to enroll in the National Cancer Institute DICER1-Related Cancer Predisposition Syndrome Natural History Study, a ~15-year-old study integral in defining the current DICER1 phenotypic spectrum. Our team includes basic science collaborators who perform functional studies on the variants involved to bolster case report data.
Coordinating team
Douglas Stewart, MD – drstewart@mail.nih.gov
Jessica Hatton, MS, CGC – Jessica.hatton@nih.gov
Institution
National Cancer Institute, National Institutes of Health, Rockville, MD, USA
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: No