Genetic and functional insights into CDA-I prevalence and pathogenesis.
Aude-Anais OlijnikNoémi B A RoyCaroline ScottJoseph A MarshJill BrownKarin LauschkeKatrine AskNigel A RobertsDamien J DownesSanja BrolihErrin JohnsonBarbara XellaMelanie ProvenRia HipkissKate RyanPer FriskJohan MäkkEva-Lena Maria StattinNandini SadasivamLouisa McIlwaineQuentin A HillRaffaele RenellaJim R HughesRichard J GibbonsAnja GrothPeter J McHughDouglas R HiggsVeronica J BuckleChristian BabbsPublished in: Journal of medical genetics (2020)
Stability and interaction data suggest that C15orf41 may be the key determinant of CDA-I and offer insight into the mechanism underlying this disease. Both proteins share a common pathway likely to be present in a wide variety of cell types; however, nucleolar enrichment may provide a clue as to the erythroid specific nature of CDA-I. The surprisingly high predicted incidence of CDA-I suggests that better ascertainment would lead to improved patient care.