Novel mutations in patients with X-linked Alport syndrome: Two case reports

Medicine (Baltimore). 2019 May;98(20):e15660. doi: 10.1097/MD.0000000000015660.


Rationale: 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.

Patient concerns: 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.

Diagnosis: We performed targeted next-generation sequencing to identify the mutations associated with AS. Results were confirmed by Sanger sequencing and multiplex ligation-dependent probe amplification. Missense mutation (c.2332G>C, p.Gly778Arg) was identified in the first case and an exon 16 deletion was also identified in the second case.

Intervention: We treated both cases with angiotensin receptor blocker (ARB).

Outcomes: The amount of proteinuria in the first case did not change after ARB therapy, during the follow-up period (1 year). Proteinuria in the woman decreased to half of the baseline level, 1 year after treatment. Glomerular filtration rate was also maintained during the follow-up.

Conclusion: We identified novel mutations in Koreans with an X-linked AS mutation in the COL4A5 gene and an individual phenotype. This is the first report of AS patients with a novel missense mutation and copy number variation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Angiotensin Receptor Antagonists / therapeutic use
  • Collagen Type IV / genetics*
  • Female
  • Glomerular Filtration Rate / drug effects
  • Humans
  • Male
  • Mutation, Missense
  • Nephritis, Hereditary / drug therapy
  • Nephritis, Hereditary / genetics*
  • Proteinuria / drug therapy
  • Republic of Korea


  • Angiotensin Receptor Antagonists
  • COL4A5 protein, human
  • Collagen Type IV