Ascertaining pathogenicity of genetic variants: caution required

Zainab Arslan¹, Elizabeth Watson², Detlef Bockenhauer^{3

4}

Affiliations

¹ Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, London, UK. Zainab.arslan@gosh.nhs.uk.
² Southwest Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
³ Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, London, UK.
⁴ Department of Renal Medicine, University College London, London, UK.

Comment

Zainab Arslan et al. Pediatr Nephrol. 2023 May.

. 2023 May;38(5):1695-1696.

doi: 10.1007/s00467-023-05909-x. Epub 2023 Feb 21.

Zainab Arslan¹, Elizabeth Watson², Detlef Bockenhauer^{3

4}

¹ Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, London, UK. Zainab.arslan@gosh.nhs.uk.
² Southwest Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
³ Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, London, UK.
⁴ Department of Renal Medicine, University College London, London, UK.

No abstract available

Comment in

Necessity of genetic testing on asymptomatic proteinuria before the progression of nephrotic syndrome in children with focal segmental glomerulosclerosis.
Fujinaga S, Oba D. Fujinaga S, et al. Pediatr Nephrol. 2023 Sep;38(9):3199-3200. doi: 10.1007/s00467-023-06016-7. Epub 2023 May 10. Pediatr Nephrol. 2023. PMID: 37162573 No abstract available.

Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?
Arslan Z, Webb H, Ashton E, Foxler B, Tullus K, Waters A, Bockenhauer D. Arslan Z, et al. Pediatr Nephrol. 2023 Apr;38(4):1051-1056. doi: 10.1007/s00467-022-05569-3. Epub 2022 Jul 8. Pediatr Nephrol. 2023. PMID: 35802272
High prevalence of pathogenic variants in Japanese children with steroid-resistant nephrotic syndrome without edema detected by urine screening program.
Fujinaga S, Sakuraya K. Fujinaga S, et al. Pediatr Nephrol. 2023 May;38(5):1693-1694. doi: 10.1007/s00467-022-05863-0. Epub 2023 Jan 4. Pediatr Nephrol. 2023. PMID: 36598598 No abstract available.

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1. Arslan Z, Webb H, Ashton E, Foxler B, Tullus K, Waters A, Bockenhauer D (2022) Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported? Pediatr Nephrol: https://doi.org/10.1007/s00467-022-05569-3
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