PubMed ID | Description |
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21398687 | Gardie et al. (2011) identified 32 different heterozygous germline mutations (15 missense, 6 frameshifts, 4 nonsense, 1 deletion/insertion, 5 splicing site and 1 complete deletion). 40 of the 56 families with proven Hereditary Leiomyomatosis and Renal Cell Cancer. Lymphoblstoid cell lines were generated by Epstein-Barr virus transformation of leucocytes. FH enzyme activity was measured spectrophotometrically. A reduction of at least 50% of the enzymatic activity was observed for all mutations tested. A difference of enzyme activities between missense mutations and loss of function mutations (deletions, nonsense mutations, splice site mutations) was NOT observed. |
Heterozygous loss of function variants result in autosomal dominant Leiomyomatosis and renal cell cancer. Biallelic variants result in autosomal recessive fumarase deficiency
PubMed ID | Description |
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N/A | |
no evidence for triplosensitivity