Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome

What is it about?

Alport syndrome (AS) is an inherited glomerulonephropathy characterized by persistent microscopichaematuria, proteinuria, progressive renal failure, sensorineural hearing loss, and variable ocular anomalies.1 Autosomal-recessive AS is caused by homozygous or compound heterozygous mutations in the COL4A3 or COL4A4 genes.2 This paper describes the first reported consanguineous family with autosomal recessive AS caused by novel double homozygous mutations in the COL4A3 gene.

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Why is it important?

This paper describes the first reported consanguineous family with autosomal recessive AS caused by novel double homozygous mutations in the COL4A3 gene.