Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we
identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes
cubulin, using exome capture and massively parallel re-sequencing. The mutation
segregated with affected members of this family and was absent from 92 healthy individuals,
thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in
this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary …
identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes
cubulin, using exome capture and massively parallel re-sequencing. The mutation
segregated with affected members of this family and was absent from 92 healthy individuals,
thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in
this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary …