A De Novo Mutation in the AGXT Gene Causing Primary Hyperoxaluria Type 1  Emma L. Williams, PhD, Markus J. Kemper, MD, Gill Rumsby, PhD, FRCPath  American Journal of Kidney Diseases  Volume 48, Issue 3, Pages 481-483 (September 2006) DOI: 10.1053/j.ajkd.2006.05.022 Copyright © 2006 National Kidney Foundation, Inc. Terms and Conditions

Fig 1 Family tree showing results of linkage analysis with 2 polymorphic markers, Int 4 (a variable number of tandem repeats in exon 4 of the AGXT gene) and D2S140 (a microsatellite close to the AGXT gene) with the predicted disease alleles shown in boxes. Subsequent mutation analysis showed that II:1 had a de novo mutation on the paternal allele that changed the predicted genotype of II:2 from carrier to unaffected and that of II:3 from affected to carrier. American Journal of Kidney Diseases 2006 48, 481-483DOI: (10.1053/j.ajkd.2006.05.022) Copyright © 2006 National Kidney Foundation, Inc. Terms and Conditions