Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome

Wijewickrama Eranga Sanjeewa,Loh Hwai Liang,Dissanayake Vajira Hw,Choong Lye Wai,Hettiarachchi Dineshani

doi:10.23937/2378-3648/1410051

Abstract

Alport syndrome is an inherited disease of collagen IV leading to progressive glomerular sclerosis associated with variable degrees of proteinuria and haematuria, sensorineural deafness and ocular abnormalities. Here we describe a novel mutation involving the COL4A5 gene leading to X-linked Alport syndrome (XLAS) in a Singhalese family of six children born to nonconsanguineous parents of Sri Lankan origin.

Highlights

Alport syndrome is an inherited disease of collagen IV leading to progressive glomerular sclerosis associated with variable degrees of proteinuria and haematuria, sensorineural deafness and ocular abnormalities
We describe a novel mutation involving the COL4A5 gene leading to X-linked Alport syndrome (XLAS) in a Singhalese family of six children born to nonconsanguineous parents of Sri Lankan origin
We describe a novel mutation involving the COL4A5 gene leading to X-linked Alport syndrome in the same population

Summary

Introduction

IV leading to progressive glomerular sclerosis associated with variable degrees of proteinuria, haematuria, sensorineural deafness and ocular abnormalities [1]. A 17-year-old female was incidentally detected as having proteinuria and haematuria with normal kidney function while being evaluated for a febrile illness Her renal biopsy showed minimal changes on light microscopy, was negative for immune deposits and only showed subtle abnormalities in the glomerular basement membrane. Her mother (47 years) was a diagnosed patient with end stage kidney disease due to an unknown cause. The identified variant was re-confirmed in the proband and the family members were screened for the identified variant by Sanger sequencing He was subsequently detected as having bilateral sensorineural hearing loss without any ocular abnormalities. The 8-year-old sister had proteinuria, microscopic haematuria with normal kidney function

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Conclusion