Gene/phenotype/disorder of interest
- TRAPPC6A – candidate gene for autosomal recessive intellectual disability
- TRAPPC6B – Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA; OMIM #617862)
Abstract
We are seeking individuals with rare biallelic variants in TRAPPC6A, a candidate gene for autosomal recessive intellectual disability, and individuals with biallelic pathogenic or likely pathogenic variants in TRAPPC6B. Individuals with TRAPPC6B VUS may also be of interest for subsequent exploratory analyses. For TRAPPC6A, the aim is to expand genetic evidence and prioritize variants for functional investigation using CRISPR-engineered cell models. For TRAPPC6B, we aim to assemble a molecularly defined cohort with peripheral-blood DNA to investigate whether pathogenic variants are associated with a reproducible DNA methylation profile and whether TRAPPC6A cases show different degrees of epigenomic convergence. Clinical information, segregation data and peripheral-blood DNA would be particularly valuable.
Coordinating clinician
Laura Machado Lara Carvalho; lauralara@usp.br; lauralara.ctit@gmail.com
Institution
University of Sao Paulo, Sao Paulo, Brazil
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: Y
- Resampling of patients: Resampling may be required when stored peripheral-blood DNA is unavailable for DNA methylation analysis.
- Linked to a translational/basic research project? Y