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

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

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

Author(s) -

Kershaw Christopher,

Demain Leigh,

Baker Eleanor,

Burghel George,

Durkie Miranda,

Forde Claire,

Makin Guy,

Cheesman Edmund,

Warren Anne,

Gokhale David,

Schlecht Helene,

Maher Eamonn,

Oliveira Pedro,

Woodward Emma

Publication year - 2025

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/cge.14723

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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