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A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus  Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

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Presentation on theme: "A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus  Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,"— Presentation transcript:

1 A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus 
Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi, Gerry Melino  Journal of Investigative Dermatology  Volume 114, Issue 6, Pages (June 2000) DOI: /j x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical presentation and histopathology. (a) Hyperkeratotic lesions on the right palm and (b) right sole. The lesions (arrows) are well demarcated from the adjacent normal skin and follow the lines of Blaschko. (c) Histopathology of a skin biopsy from the right palm, including both affected (▴) and nonaffected (□) tissue. Hyperkeratosis and vacuolar degeneration of the granular layer are present in the affected region. The adjacent unaffected skin is normal. (d) Electron microscopy shows marked tonofilament clumping (▵). The tonofilament aggregates are connected (▴) with keratohyaline granules (scale bar: 0.8 μm). Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Mutation analysis. Sequence analysis of the K16 gene using the anti-sense primer K16R1: (a) from cDNA obtained form normal tissue (left hand); (b) from affected tissue. Stars indicate peaks derived from the overlap of the wild-type allele with the mutated allele. (c) Portion of the K16 gene sequence showing (in red) the nucleotides and predicted amino acids deleted. (d) Schematic representation of the sequence pattern derived from the overlap of the wild-type and mutated alleles. Stars indicate the predicted heterozygous nucleotides corresponding to those visible on the sequence trace above. Electrophoretic analysis (e, f) of a PCR-amplified 204 bp fragment containing the 12 bp deletion, using: (e) mRNA of normal (lane 1) and affected tissue (lane 2); (f) genomic DNA of the proband (lane 1), parents (lanes 2 and 3), and normal controls (lanes 4 and 5). Two bands of 204 bp and 192 bp are visible only in the mRNA from the affected palm. The deletion is absent in the mRNA from the unaffected palm, the genomic DNA of the patient and in normal genomic DNA. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

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