Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1

• By examining over 100 unique variants associated with the CASR gene causative of ADH1, the average frequency of gain-of-function CASR variants was ~3.7 per 100,000, closely aligned to previously published estimates1 (3.9 per 100,000), which equates to approximately 25,000 carriers of ADH1-causing variants in the US and EU - Only ~20% of individuals with genetic variants linked to ADH1 were found to have an established diagnosis, highlighting a major gap in disease recognition and care - Nine novel gain-of ...