Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

ABSTRACT:

Background

Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH). Here we characterise the clinical and genetic features of 21 new families and present the first report of two African-American families with HLRCC.

Methods

Using direct sequencing analysis we identified FH germline mutations in 100% (21/21) of new families with HLRCC.

Results

We identified 14 germline FH mutations (10 missense, one insertion, two nonsense, and one splice site) located along the entire length of the coding region. Nine of these were novel, with six missense (L89S, R117G, R190C, A342D, S376P, Q396P), one nonse

SUBMITTER: Wei MH 

PROVIDER: S-EPMC2564499 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature