Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

Christopher Kershaw; Leigh Demain; Eleanor Baker; George Burghel; Miranda Durkie; Claire Forde; Guy Makin; Edmund Cheesman; Anne Warren; David Gokhale; Helene Schlecht; Eamonn Maher; Pedro Oliveira; Emma Woodward

doi:10.1111/cge.14723

Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

Christopher Kershaw
, Leigh Demain
, Eleanor Baker
, George Burghel
, Miranda Durkie
, Claire Forde
, Guy Makin
, Edmund Cheesman
, Anne Warren
, David Gokhale
, Helene Schlecht
, Eamonn Maher
, Pedro Oliveira
, Emma Woodward^*

^*Corresponding author for this work

Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester UK
Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK,Division of Psychology and Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
Sheffield Diagnostics Genetic Service Sheffield Children's NHS Foundation Trust Sheffield UK
Department of Paediatric Oncology Royal Manchester Children's Hospital Manchester UK
Department of Paediatric Histopathology Royal Manchester Children's Hospital Manchester UK
Department of Histopathology Cambridge University Hospitals NHS Foundation Trust Cambridge UK
Department of Pathology The Christie NHS Foundation Trusts Manchester UK

Research output: Contribution to journal › Letter, comment/opinion or interview › peer-review

1 Citation (Scopus)

Abstract

An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in FH (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.

Original language	English
Pages (from-to)	702-704
Number of pages	3
Journal	Clinical genetics
Volume	107
Issue number	6
Early online date	4 Feb 2025
DOIs	https://doi.org/10.1111/cge.14723
Publication status	Published - Jun 2025

Funding

This work was supported by Manchester Biomedical Research Centre, NIHR203308.

Keywords

pre‐mRNA splicing
whole genome sequencing
splicing
RNA

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10.1111/cge.14723

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Kershaw, C., Demain, L., Baker, E., Burghel, G., Durkie, M., Forde, C., Makin, G., Cheesman, E., Warren, A., Gokhale, D., Schlecht, H., Maher, E., Oliveira, P., & Woodward, E. (2025). Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma. Clinical genetics, 107(6), 702-704. https://doi.org/10.1111/cge.14723

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title = "Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma",

abstract = "An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in FH (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.",

keywords = "pre‐mRNA splicing, whole genome sequencing, splicing, RNA",

author = "Christopher Kershaw and Leigh Demain and Eleanor Baker and George Burghel and Miranda Durkie and Claire Forde and Guy Makin and Edmund Cheesman and Anne Warren and David Gokhale and Helene Schlecht and Eamonn Maher and Pedro Oliveira and Emma Woodward",

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doi = "10.1111/cge.14723",

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journal = "Clinical genetics",

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Kershaw, C, Demain, L, Baker, E, Burghel, G, Durkie, M, Forde, C, Makin, G, Cheesman, E, Warren, A, Gokhale, D, Schlecht, H, Maher, E, Oliveira, P & Woodward, E 2025, 'Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma', Clinical genetics, vol. 107, no. 6, pp. 702-704. https://doi.org/10.1111/cge.14723

TY - JOUR

T1 - Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

AU - Kershaw, Christopher

AU - Demain, Leigh

AU - Baker, Eleanor

AU - Burghel, George

AU - Durkie, Miranda

AU - Forde, Claire

AU - Makin, Guy

AU - Cheesman, Edmund

AU - Warren, Anne

AU - Gokhale, David

AU - Schlecht, Helene

AU - Maher, Eamonn

AU - Oliveira, Pedro

AU - Woodward, Emma

PY - 2025/6

Y1 - 2025/6

N2 - An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in FH (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.

AB - An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in FH (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.

KW - pre‐mRNA splicing

KW - whole genome sequencing

KW - splicing

KW - RNA

UR - https://onlinelibrary.wiley.com/doi/10.1111/cge.14723

UR - https://www.scopus.com/pages/publications/85216786968

U2 - 10.1111/cge.14723

DO - 10.1111/cge.14723

M3 - Letter, comment/opinion or interview

C2 - 39904744

SN - 0009-9163

VL - 107

SP - 702

EP - 704

JO - Clinical genetics

JF - Clinical genetics

IS - 6

ER -

Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

Abstract

Funding

Keywords

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