CNTN6 (contactin 6) encodes a cell adhesion molecule of the immunoglobulin superfamily that plays critical roles in nervous system development and function. The protein participates in oligodendrocyte generation by serving as a ligand for NOTCH1, promoting NOTCH1 activation through release of the notch intracellular domain (NICD) and its nuclear translocation 1. CNTN6 functions in axon guidance, synapse organization, and formation of axon connections during nervous system development 2. Copy number variations affecting CNTN6, including microdeletions and microduplications in the 3p26.3 region, are associated with neurodevelopmental disorders such as intellectual disability, developmental delay, and autism spectrum disorders 234. Notably, CNTN6 deletions and coding variants are enriched in autism spectrum disorder patients, particularly those with abnormal auditory sensory perception and hyperacusis 3. Recent studies have identified CNTN6 as a novel causative gene for congenital hypothyroidism, where it mediates thyroid hormone biosynthesis through Notch signaling by regulating expression of key thyroid genes including SLC5A5, TPO, and DUOX2 1. Interestingly, CNTN6 duplications show variable penetrance and allele-specific biased expression in patient-derived neurons 5, suggesting complex regulatory mechanisms underlying CNTN6-related pathologies.