• Users Online: 22
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
Year : 2022  |  Volume : 22  |  Issue : 4  |  Page : 232-235

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

1 Department of Medicine, The University of Toronto, Toronto, Canada
2 Department of Nephrology, NU Hospitals, Bengaluru, Karnataka, India
3 Dhitiomics Technologies Pvt Ltd, Bengaluru, Karnataka, India
4 Department of Medicine,Cleveland Clinic Foundation/Fairview Hospital, Connecticut, United States

Correspondence Address:
Dr. Avinash Rao Ullur
Clinical Fellow in Adult Nephrology, Department of Medicine, The University of Toronto, Toronto
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jesnt.jesnt_42_21

Rights and Permissions

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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded69    
    Comments [Add]    

Recommend this journal