Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
BACKGROUND
Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to a segmental type 1 or type 2 distribution. We report a patient showing multiple leiomyomas distributed according to a segmental type 2 distribution and covering several areas exclusively on the left side of his body.


OBJECTIVE
To search for a specific mutation in the FH gene associated with this phenotype.


METHODS
Genomic DNA from peripheral blood leucocytes of the proband was sequenced and screened for mutation of the FH gene.


RESULTS
Heterozygosity for an as yet undescribed mutation c.695delG, leading to a truncated protein p.Gly232AspfsX24, was found.


CONCLUSIONS
We report a new mutation in the FH gene and discuss the unusual pattern of purely unilateral distribution in the present case.
Parmentier
Laurent
L
Department of Dermatology, Hôpitaux Universitaires de Genève, Genève, Switzerland. laurent.parmentier@insel.ch
Tomlinson
Ian
I
Happle
Rudolf
R
Borradori
Luca
L
D000328:Adult; D005649:Fumarate Hydratase / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D053685:Laser Therapy; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008297:Male; D009386:Neoplastic Syndromes, Hereditary; D017384:Sequence Deletion; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D016896:Treatment Outcome; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy
D005649:Fumarate Hydratase