Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.

Abstract excerpt

Autosomal recessive Alport syndrome can arise from a mutation in either of the genes COL4A3 and COL4A4 on chromosome 2, which encode, respectively, the alpha 3 and alpha 4 chains of Type IV collagen. This report describes a mutation in COL4A3 in a girl who presented at age 5 with hematuria and proteinuria, lacking any family history of renal disease. Renal biopsy at age 8 showed immunoglobulin A nephropathy and...

Topics

• Adult
• Base Sequence
• Basement Membrane
• Female
• Genes, Recessive
• Humans
• Kidney Glomerulus
• Kidney Transplantation
• Molecular Probes
• Molecular Sequence Data
• Mutation