Genetic Breakthrough Reveals New Disease Mechanism in Rare Craniofacial Disorder
Researchers have uncovered a novel disease mechanism in Teebi hypertelorism syndrome involving disruption of protein translation initiation. The study reveals how an intragenic deletion activates alternative start sites, producing truncated proteins that contribute to the disorder’s characteristic features.
Novel Genetic Mechanism Uncovered in Rare Syndrome
Scientists have identified a previously unknown disease mechanism in Teebi hypertelorism syndrome 1 (TBHS1), according to a recent case study published in npj Genomic Medicine. The research reveals how an intragenic deletion disrupts normal protein translation initiation, leading to the production of abnormal protein isoforms that contribute to the disorder’s characteristic craniofacial features.