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Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene ( COL4A3 ), the collagen type IV alpha-4 gene ( COL4A4 ), and the collagen type IV alpha-5 gene ( COL4A5 ), which encodes type IV collagen  α 3,  α 4, and  α 5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Gln fs *36) in the  COL4A5  gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical  COL4A5 -related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy) were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD). Our discovery broadens the mutation spectrum in the  COL4A5  gene associated with AS, which may also shed new light on genetic counseling for AS.

A NovelCOL4A5Mutation Identified in a Chinese Han Family Using Exome Sequencing