A novel mutation (c.2762_2763insG; p.Pro923fs) identified in a patient with Alport Syndrome

Abstract

Background: Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).  

Case presentation: A 2-year-old male patient had come to a clinic with the complaints of the developmental delay and the self-mutilation behavior. The clinician’s suspected Alport Syndrome on the basis of the clinical features. Parents were married consanguineously.

Results: We undertook exome sequencing analysis and identified a novel heterozygous mutation (c.2762_2763insG; p. Pro923fs) in the COL4A4 gene in this patient with Alport syndrome. The pathogenic mutation was confirmed by Sanger sequencing method. As per the genomic databases, this variant has been not reported till date.

Conclusions: This study identified a novel mutation in the COL4A4 gene in Alport syndrome, which will help in genetic diagnosis of such cases.