Article
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
The British journal of dermatology - 1 Jul 2005
Alam N A, Olpin S, Leigh I M
Abstract excerpt
Germline heterozygous loss-of-function mutations of fumarate hydratase (FH) predispose to the autosomal dominant syndrome of multiple cutaneous and uterine leiomyomatosis (MCUL). Forty-five distinct FH mutations have been identified in 76 of 89 (85%) reported probands with skin leiomyomas. This suggests that MCUL is a genetically homogeneous condition and that most patients presenting with skin leiomyomas will...
Topics
- Female
- Fumarate Hydratase
- Genetic Predisposition to Disease
- Humans
- Kidney Neoplasms
- Leiomyoma
- Mutation
- Neoplastic Syndromes, Hereditary
- Skin Neoplasms
- Uterine Neoplasms