Autosomal recessive ATS was diagnosed in 10 patients from 7 families (6 compound heterozygotes and 1 homozygous for COL4A3 and COL4A4 variants): one third of the patients developed renal failure at a mean age of 33 years, 87% (7 out of 8 for whom data were available) had sensorineural hearing loss, and 75% (3 out of 4) had typical ATS ocular anomalies (Table 1 and Table S1). Here, COL4A4 is linked to kidney failure.