| Description |
Alport syndrome, a hereditary kidney disease with high risk of renal failure, is attributed to the mutations in genes COL4A3, COL4A4 or COL4A5 that encode type IV collagen. Here, we reported a 27-year-old Chinese woman diagnosed with autosomal recessive Alport syndrome. She was compound heterozygote for two mutations in the COL4A3 gene, including c.2990G>A inherited from her father and c.4981C>T inherited from her mother. The variant, COL4A3 c.2990G>A, was also detected in her father and other two affected patrilineal relatives who presented with thin basement membrane nephropathy. And her mother with COL4A3 c.4981C>T variant was asymptomatic. The coexisting of these two mutations in patients with Alport syndrome is not reported so far. |
