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Cerebral Cavernomas in a Family with Multiple Cutaneous and Uterine Leiomyomas Associated with a New Mutation in the Fumarate Hydratase Gene  Elena Campione,

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Presentation on theme: "Cerebral Cavernomas in a Family with Multiple Cutaneous and Uterine Leiomyomas Associated with a New Mutation in the Fumarate Hydratase Gene  Elena Campione,"— Presentation transcript:

1 Cerebral Cavernomas in a Family with Multiple Cutaneous and Uterine Leiomyomas Associated with a New Mutation in the Fumarate Hydratase Gene  Elena Campione, Alessandro Terrinoni, Augusto Orlandi, Andrea Codispoti, Gerry Melino, Luca Bianchi, Annamaria Mazzotta, Francesco Giuseppe Garaci, Andrea Ludovici, Sergio Chimenti  Journal of Investigative Dermatology  Volume 127, Issue 9, Pages (September 2007) DOI: /sj.jid Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigree, clinical presentation, and MRI study. (a) Pedigree of the family showing affected members spanning four generations. Only patient I-2 was not studied by MRI because of her old age. (b) Picture of patient II-2 showing the presence of cutaneous leiomyomas that presented as firm brown nodules localized on the upper limbs. (c) Axial MR T2-weighted image from patient III-2 shows an intra-axial right temporal mass (arrow) with a complete rim of hypointensity (hemosiderin) and a reticulated core, which is heterogeneously hyper-intense (“popcorn-like”) consistent with cerebral cavernomas. (d) Axial gradient-echo image at the level of the centrum semiovale shows at least two cavernomas in the left hemisphere (arrows); similar features are visible in patient II-2. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Molecular, genetic, and structural analysis of FH. (a), RT-PCR of the whole FH transcript (primers: +5′-AATTCTACCCAAGCTCCCTC-3′; -5′-AAATTGCTCTGCTAGAGATGC-3′), showing the extra band due to the mutated allele, approximately700bp larger than the wild type. The extra band (asterisks) is present in all affected members. (b) Analysis of genomic DNA (primers: +5′-AGGGTTTGGCAAATGTAGATT-3′; -5′-TCAGTATGAGTGTGAGGCAATTAG-3′), showing the presence of the mutated allele (asterisks) demonstrating that the duplication detected on the mRNA is due to a duplication present in the genomic DNA. (c) Schematic representation of the mutation. The duplication of a region of 925bp, containing exon 7 and part of the flanking introns, 6 and 7, generates an additional exon (exon 7′) and a functional hybrid intron (intron 7′) (oblique stripes). Model structure of wild-type fumarase enzyme, based on yeast template 1YFM.pdb (d) compared to the mutant enzyme (e). The models obtained were processed using DeepView/Swiss PdbViewer v 3.7 from GlaxoSmithKline. The active site (green) is formed by the tetrameric interaction of four identical molecules (not shown). The duplication of exon 7 in the mutant form creates an extra helical domain protruding from the active site. This domain also contains a duplication of a portion of the active site (white arrows), probably causing the loss of activity of the mutant enzyme. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

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