Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

doi:10.1186/s13023-024-03017-z

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Article

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

Orphanet journal of rare diseases - 26 Jan 2024

Sánchez-Heras Ana Beatriz, Dámaso Estela, Castillejo Adela, Robledo Mercedes, Teulé Alexandre, Lázaro Conxi, Sánchez-Martínez Rosario, Zúñiga Ángel, López-Fernández Adrià, Balmaña Judith, Robles Luis, Ramon Y Cajal Teresa, Castillejo M Isabel, Ibañez Raquel Perea, Sevila Carmen Martínez, Sánchez-Mira Andrea, Escandell Inés, Gómez Luís, Berbel Pere, Soto José Luis

Abstract excerpt

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heterozygous variant, FH(NM_000143.4):c.1118A > G p.(Asn373Ser), in 104 individuals from 31 apparently unrelated families. Here, we aimed to establish its founder effect and...

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PMID: 38279137
DOI: 10.1186/s13023-024-03017-z
PMCID: PMC10811853

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