Publications by authors named "Carmen Martinez Sevila"
Orphanet J Rare Dis
January 2024
Article Synopsis
- Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare genetic condition linked to mutations in the FH gene, with a prevalent mutation identified in a large cohort from Spain.
- The study confirmed that a common variant, FH c.1118A > G p.(Asn373Ser), likely originated from a single ancestor 12-26 generations ago, causing specific health issues such as uterine leiomyomatosis and renal cell cancer in affected individuals.
- In Alicante, Spain, this founder mutation is prevalent, and genetic testing for this specific mutation is suggested as a more efficient diagnostic method than full gene sequencing for those suspected of having HLRCC.
