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

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

Abstract 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....

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Bibliographic Details
Main Authors: Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira, Inés Escandell, Luís Gómez, Pere Berbel, José Luis Soto
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Haplotypes
Founder mutation
Common ancestor
Hereditary leiomyomatosis
FH
Renal cell cancer
Online Access:https://doi.org/10.1186/s13023-024-03017-z

Internet

https://doi.org/10.1186/s13023-024-03017-z

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