Gene/phenotype/disorder under study
YTHDF3 (OMIM # 618669)
Abstract
We are seeking to identify and collaborate on cases of individuals with monoallelic variants in YTHDF3, a gene encoding an m6A RNA-binding protein involved in post-transcriptional regulation.
We have previously reported a case series of individuals with deletions involving YTHDF3, suggesting an association between haploinsufficiency and neurodevelopmental disorder. However, the full clinical spectrum associated with heterozygous sequence variants or other gene-disrupting variants remains to be established.
To further delineate genotype–phenotype correlations, we are collecting clinical and genetic information from additional affected individuals to expand the previous case series. If you have identified individuals heterozygous for YTHDF3 variants, including SNVs, indels, or CNVs, we would be very interested in collaborating.
Coordinating clinician
Thorkild Terkelsen – thoter@rm.dk
Institution
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
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