Department of Dermatology, Hôpitaux Universitaires de Genève, Genève, Switzerland.
Dermatology. 2010;221(2):149-53. doi: 10.1159/000315068. Epub 2010 Jul 13.
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.
To search for a specific mutation in the FH gene associated with this phenotype.
Genomic DNA from peripheral blood leucocytes of the proband was sequenced and screened for mutation of the FH gene.
Heterozygosity for an as yet undescribed mutation c.695delG, leading to a truncated protein p.Gly232AspfsX24, was found.
We report a new mutation in the FH gene and discuss the unusual pattern of purely unilateral distribution in the present case.
多发性皮肤和子宫平滑肌瘤综合征（MCUL；MIM 150800）是一种罕见的疾病，有时会导致肾癌。它是由延胡索酸水合酶（FH）基因的有害突变引起的。在许多患者中，皮肤平滑肌瘤已被报道按照节段 1 型或 2 型分布方式发展。我们报告了一名患者，其多发性平滑肌瘤按照节段 2 型分布方式分布，并仅分布在身体左侧的几个区域。
寻找与该表型相关的 FH 基因突变。
对先证者外周血白细胞的基因组 DNA 进行测序，并筛选 FH 基因突变。
发现杂合性 c.695delG 突变，导致截短蛋白 p.Gly232AspfsX24。
我们报告了 FH 基因的一个新突变，并讨论了本病例中单侧分布的异常模式。
