Related Experiment Video
Updated: May 12, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case
Marc Henein1, Felicia Russo1,2, Chantal Bernard3
1Division of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada.
Introduction:
Type IV collagen trimers are major structural components of the kidney glomeruli and tubules. Several loss-of-function COL4A1 and COL4A2 variants have been reported to cause cerebral small vessel disease. However, there is little evidence to suggest that loss-of-function variants in these genes can cause kidney disease.
Case Presentation:
Here we report a case of a patient with thin basement membrane nephropathy and chronic kidney disease (CKD) who was found to bear a 1.9 Mb heterozygous contiguous gene deletion of chromosome 13q33.3-q34 that includes COL4A1 and a large region of COL4A2.
Conclusion:
We propose that haploid expression of COL4A1 in combination with COL4A2 can lead to thin basement membrane nephropathy and CKD.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
Pleiotropy
Type IV Collagen of Basal Lamina
A type IV collagen molecule has six alpha chains which can exist in...
Nephrons
Chronic Kidney Disease II: Clinical Manifestations