Coenzyme Q8B gene variant related to glomerulopthy: A case report from Iran

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Coenzyme Q8B gene variant related to glomerulopthy: A case report from Iran

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Co-author 1

Jalal Etemadi jalaletemadi@yahoo.com Tabriz University of Medical Sciences Kidney Research Center Tabriz Iran *

Co-author 2

Seyyedeh Mina Hejazian s.mina.hejazian@gmail.com Tabriz University of Medical Sciences Kidney Research Center Tabriz Iran -

Co-author 3

Roza Motavalli rozamotavalli@gmail.com Tabriz University of Medical Sciences Molecular Medicine Research Center Tabriz Iran -

Co-author 4

Farahnoosh Farnood farnoodkidney@gmail.com Tabriz University of Medical Sciences Kidney Research Center Tabriz Iran -

Co-author 5

Sepideh Zununi Vahed sepide.zununi@gmail.com Tabriz University of Medical Sciences Kidney Research Center Tabriz Iran -

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Introduction

Mutations in Coenzyme Q8B (COQ8B) gene can cause primary CoQ10 deficiency, which clinically presents as steroid-resistant nephrotic syndrome and histologically as Focal segmental glomerulosclerosis (FSGS). This study aimed to report a new variant in the COQ8B gene.

Methods

This study describes a 22-year-old man who presented with nephrotic-range proteinuria and renal dysfunction from Iran. He was born to consanguineous parents. Renal biopsy findings were consistent with FSGS. He was a candidate for whole-exome sequencing (WES) test as a next-generation sequencing (NGS).

Results

The WES of the patient identified Variant rs775858878, a frameshift deletion described as ENST00000324464.8: c.49_58del (p.Gly17LeufsTer56), located at chr19: 40714575 (GRCh38) in the COQ8B gene. To the best of our knowledge, this polymorphism was not reported in patients with nephrotic syndrome. The therapeutic response to the corticosteroid and mycophenolate mofetile were poor. After gene study, the corticosteroid and mycophenolate mofetile and atorvastatin were discontinued and CoQ10 supplement was started. Unfortunately, he progressed to the ESRD over one year.

Conclusion

This case emphasizes the importance of early genetic testing in patients with FSGS, even during early adulthood, particularly for identifying potentially treatable mutations. It also highlights the need for caution when prescribing statins, such as atorvastatin.

Kewords