HTRA1 and autosomal dominant disease: Two of these have previously been reported as disease-causing: p.Arg302Ter was reported in both recessive and dominant disease19,20; p.Asp450His was reported in autosomal dominant disease.21 p.Arg302Ter has been demonstrated to result in a mutant protein with 21%–50% of normal protease activity.19 There were no individuals with compound heterozygous or homozygous HTRA1 variants.