Table 1.

Baseline characteristics of the study cohort.

Patient/FamilySex, Age (yr)GFR (ml/min/1.73 m2)AGXT Mutation (AGT protein)Minor/Major Allele (p.P11L status)Vit B6 before StudyGrade of NephrocalcinosisUrolithiasis
Pat 1/F1m, 16113c.508G>A, MissenseMinor alleleY1N
(p.G170R)(p.11L)
c.959_960delCA, Frameshiftmajor allele
(p.T320Sfs*11)(p.11P)
Pat 2/F1m, 18129c.508G>A, MissenseMinor alleleYY
(p.G170R)(p.11L)
c.959_960delCA, Frameshiftmajor allele
(p.T320Sfs*11)(p.11P)
Pat 3/F2f, 12152c.508G>A, MissenseMinor alleleYY
(p.G170R)(p.11L)
c.364C>T, Stopminor allele
(p.R122*)(p.11L)
Pat 4/F3f, 11100c.33delC, FrameshiftMajor alleleY1Y
(p.K12Rfs*34)(p.11P)
c.33delC, Frameshiftmajor allele
(p.K12Rfs*34)(p.11P)
Pat 5/F4m, 13127c.454T>A, MissenseMinor alleleY1Y
(p.F152I)(p.11L)
c.1151T>C, Missensemajor allele
(p.L384P)(p.11P)
Pat 6/F5m, 17217c.508G>A, MissenseMinor alleleN2Y
(p.G170R)(p.11L)
c.508G>A, Missenseminor allele
(p.G170R)(p.11L)
Pat 7/F5m, 15214c.508G>A, MissenseMinor alleleNY
(p.G170R)(p.11L)
c.508G>A, Missenseminor allele
(p.G170R)(p.11L)
Pat 8/F6m, 7142c.327delG, FrameshiftMajor alleleNY
(p.Q110Sfs*10)(p.11P)
c.327delG, Frameshiftmajor allele
(p.Q110Sfs*10)(p.11P)
Pat 9/F7f, 1291c.560C>T, MissenseMinor alleleN2Y
(p.S187F)(p.11L)
c.836T>C, Missenseminor allele
(p.I279T)(p.11L)
Pat 10/F8m, 10118c.482G>A, MissenseMajor alleleYN
(p.G161D)(p.11P)
c.976delG, Frameshiftmajor allele
(p.V326Yfs*15)(p.11P)
Pat 11/F9f, 15182c.508G>A, MissenseMinor alleleYN
(p.G170R)(p.11L)
c.847-3C>G, Splice site loss of splice acceptor exon 9major allele (p.11P)
Pat 12/F10f, 11153c.508G>A, MissenseMinor alleleYN
(p.G170R)(p.11L)
c.508G>A, Missenseminor allele
(p.G170R)(p.11L)
  • AGT, alanine-glyoxylate:aminotransferase; Vit B6, vitamin B6; Pat, patient; m, male; Y, yes; N, no; f, female.