Single Cell Colony Whole Genome Sequencing Data From Individuals With Telomere Syndromes

This is an observational study which examined the phylogenetic evolution of somatic clonal mutations in POT1 mutation carriers. Two individuals with telomere syndromes who carry a heterozygous germline POT1 p.R273Q variant and one related control who did not carry this variant were studied. Single cell hematopoietic colonies were derived from peripheral blood mononuclear isolates. These colonies were analyzed by whole genome sequencing (WGS) and phylogenetic trees were reconstructed accordingly. Phylogenetic reconstruction of somatic mutations show clonality is increased among POT1 p.R273Q mutation carriers and co-occurs with known clonal hematopoiesis driver mutations, including DNMT3A and/or JAK2. ]]>
Inclusion CriteriaCase: Individuals carrying a heterozygous germline POT1 p.R273Q variant Control: Individual not carrying a heterozygous germline POT1 p.R273Q variant ]]>