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Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation  Young H. Lim, Jingyao Qiu, Corey.

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Presentation on theme: "Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation  Young H. Lim, Jingyao Qiu, Corey."— Presentation transcript:

1 Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation  Young H. Lim, Jingyao Qiu, Corey Saraceni, Barbara A. Burrall, Keith A. Choate  Journal of Investigative Dermatology  Volume 136, Issue 8, Pages (August 2016) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 Clinical features and histopathology. (a) Right forearm demonstrating marked erythema, fine white scale, and numerous small white spots, all less than 5 mm in size. Pen markings designate 2 of 3 sites at which biopsies were performed. (b, c, d) ×20 histology of red affected skin, revertant skin, and normal control, respectively, showing the basal layer (B), spinous layer (S), granular layer (G) where applicable, and stratum corneum (SC). The affected epidermis demonstrates acanthosis, perinuclear vacuolization, parakeratosis, and loss of the granular layer. Revertant skin shows normal histology. Scale bar: 150 μm. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 A novel KRT10 mutation encoding a polyalanine motif causes ichthyosis with confetti (IWC) with white spots resulting from loss of heterozygosity (LOH). (a) Sanger sequencing of KRT10 in IWC100 identified a de novo c.1373Gdel mutation affecting the last base of exon 6. (b) This mutation causes entry into a mutant reading frame that abolishes the endogenous glycine-rich tail domain of keratin 10 (K10) with an alanine-rich motif that extends the carboxyl terminus by 19 additional amino acids. (c) Immunohistochemistry of KRT10 demonstrates nucleolar aggregates only in the affected (middle panel), but not revertant (left panel), skin. A higher power (×63) image is included as inset. Primary keratinocytes cultured from a biopsy also demonstrate nucleolar mislocalization of KRT10 that costain with fibrillarin, a nucleolar marker (right panel and inset). Scale bars = 100 μm. (d) LOH mapping demonstrates heterozygous genotype from 17pter to the proximal portion of the q arm, but converts to homozygosity downstream to the telomere without any change in the logR ratio, indicating copy-neutral LOH. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

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