Volume 58, Issue 5, Pages (November 2000)

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Volume 58, Issue 5, Pages 1870-1875 (November 2000) Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation Frank T.L. Van Der Loop, Laurence Heidet, Erika D.J. Timmer, Bianca J.C. Van Den Bosch, Anu Leinonen, Corinne Antignac, J. Ashley Jefferson, A. Peter Maxwell, Leo A.H. Monnens, Cornelis H. Schröder, Hubert J.M. Smeets Kidney International Volume 58, Issue 5, Pages 1870-1875 (November 2000) DOI: 10.1111/j.1523-1755.2000.00358.x Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree of the autosomal dominant Alport syndrome (AD-AS) family indicating heterozygosity for the splice site mutation and the presence of the nonpathogenic mutation. Heterozygotes for the splice site mutation (COL4A4/exon 21; G > A) are indicated by A/G, whereas homozygotes for the normal allele are indicated by G/G. Carriers of the nonpathogenic Leu > Pro mutation are indicated by Leu/Pro, while noncarriers are indicated by Leu/Leu. CC indicates the creatinine clearance (mL/min), and P indicates the 24-hour urinary protein value in grams (g). The arrow indicates the index patient. Kidney International 2000 58, 1870-1875DOI: (10.1111/j.1523-1755.2000.00358.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 2 Mutation analysis of the COL4A3 gene. Denaturing high-pressure liquid chromatography (HPLC) analysis of (A) the index patient showing heteroduplex and homoduplex peaks and (B) a control person showing one homoduplex peak. Genomic DNA sequencing of (C) the index patient and (D) a control person indicated a point mutation in exon 21. Kidney International 2000 58, 1870-1875DOI: (10.1111/j.1523-1755.2000.00358.x) Copyright © 2000 International Society of Nephrology Terms and Conditions