Novel mutations in patients with X-linked Alport syndrome

A genotype-phenotype correlation is known to be associated with Alport syndrome (AS). Identifying novel mutations can expand the knowledge about the natural course of AS.The first patient was a-15-year-old boy detected with proteinuria during the school health check-up. The second case was a-29-year-old woman, who visited the outpatient clinic for edema.We performed targeted next-generation sequencing to identify the mutations associated with...