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Article

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.

Human molecular genetics - 3 Nov 2023

Crooks Daniel R, Cawthon Geetha Mariah, Fitzsimmons Christina M, Perez Minervo, Ricketts Christopher J, Vocke Cathy D, Yang Ye, Middelton Lindsay, Nielsen Debbie, Schmidt Laura S, Tandon Mayank, Merino Maria J, Ball Mark W, Meier Jordan L, Batista Pedro J, Linehan William Marston

Abstract excerpt

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant condition characterized by the development of cutaneous and uterine leiomyomas and risk for development of an aggressive form of papillary renal cell cancer. HLRCC is caused by germline inactivating pathogenic variants in the fumarate hydratase (FH) gene, which encodes the enzyme that catalyzes the interconversion of fumarate and...

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Source

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Identifiers

PMID: 37561409
DOI: 10.1093/hmg/ddad131
PMCID: PMC10630246

Genes

FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.PMID 37561409Read ↗

Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.Semantic proximity Read ↗

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.Semantic proximity Read ↗

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.Semantic proximity Read ↗

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.Semantic proximity Read ↗

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.Semantic proximity Read ↗

Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approachSemantic proximity Read ↗

Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.Semantic proximity Read ↗

FH variant pathogenicity promotes purine salvage pathway dependence in kidney cancerSemantic proximity Read ↗

Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.Semantic proximity Read ↗

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.Semantic proximity Read ↗

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.Semantic proximity Read ↗

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.Semantic proximity Read ↗

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