An epiphanic case of X-linked Alport syndrome caused by a hitherto unreported COL4A5 gene mutation

Alport Syndrome (AS) is an inherited glomerular disease, which invariably progresses to End Stage Kidney Disease (ESRD). It can be associated with hearing impairment and ocular defects. The disease can be X-linked caused by mutations in the Type 4 Collagen alpha 5 chain (COL4A5), Autosomal Recessive (ARAS) or Autosomal Dominant (ADAS) caused by mutations in the Type 4 Collagen alpha 3 chain (COL4A3) or alpha 4 chain (COL4A4). We report a novel mutation in COL4A5 Gene causing XLAS resulting in Chronic Kidney Disease in a 34-year-old male. Whole genome sequencing of the patient, showed hemizygous variant (c.1690G>C, p. Gly564Arg) in the COL4A5 gene. The same variant was detected in his mother and his only daughter establishing that the mutation is pathogenic.