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

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

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
Number of pages	3
Journal	Clinical genetics
Early online date	4 Feb 2025
DOIs	https://doi.org/10.1111/cge.14723
Publication status	E-pub ahead of print - 4 Feb 2025

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. Advance online publication. 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.",

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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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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 - 2025/2/4

Y1 - 2025/2/4

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 - http://www.scopus.com/inward/record.url?scp=85216786968&partnerID=8YFLogxK

U2 - 10.1111/cge.14723

DO - 10.1111/cge.14723

M3 - Letter, comment/opinion or interview

C2 - 39904744

SN - 0009-9163

JO - Clinical genetics

JF - Clinical genetics

ER -

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

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Keywords

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