Table 1.

MAGED2 mutations detected in patients with transient antenatal Bartter syndrome

FamilyProband SexInheritanceNucleotide (cDNA)ProteinExon/IntronType of Mutation
F1MDe novoc.607C>Tp.Arg203Tere4Nonsense
F2MFamilialc.842_843dupp.Arg282GlyfsTer7e4Frameshift
F3MFamilialc.967C>Tp.Arg323Tere6Nonsense
F4M?c.967dupp.Arg323ProfsTer18e6Frameshift
F5MDe novoc.1085+1G>Ap.?i7Splice (frameshift)
F6M?c.1271+1G>Ap.?i10Splice (in frame)
F7MFamilialc.1336C>Tp.Arg446Cyse11Missense
F8MFamilialc.1337G>Ap.Arg446Hise11Missense
F9MFamilialc.1366G>Tp.Val456Phee11Missense
F10MFamilialc.1384_1386+4delp.?e11/i11Splice (frameshift)
F11, F12M, FFamilialc.1420C>Tp.Gln474Tere12Nonsense
F13M?c.1458_1466delp.Glu488_Ala490dele12In frame deletion
F14M?c.1464_1475delp.Ala490_Ala493dele12In frame deletion
F15MFamilialc.1515_1516dupp.Gly506ValfsTer71e12Frameshift
F16MFamilialcomplete deletionp.?e1-e13Large deletion
  • M, male; ?, unknown; F, female.