A whole exome sequencing study of 11 Dutch ATD-Ag cases (including 5 from 2 families) identified a missense variant in the NADPH oxidase-3 (NOX3) gene (Ala198Thr; rs117412760), that was present in 3 of 8 (37%) unrelated ATD-Ag patients and which co-segregated with ATD-Ag in one family (Plantinga et al., 2017). The gene discussed is RENBP; the disease is Jeune syndrome.