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Case Reports
. 2016 Aug;136(8):1725-1728.
doi: 10.1016/j.jid.2016.04.023. Epub 2016 May 18.

Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation

Young H Lim  1 , Jingyao Qiu  2 , Corey Saraceni  3 , Barbara A Burrall  4 , Keith A Choate  5
Affiliations
Case Reports

Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation

Young H Lim et al. J Invest Dermatol. 2016 Aug.
No abstract available

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Conflict of interest statement

CONFLICT OF INTEREST

The authors state no conflict of interest.

Figures

Figure 1
Figure 1. Clinical features and histopathology
(a) Right forearm demonstrating marked erythema, fine white scale, and numerous small white spots, all less than 5mm in size. Pen markings designate 2 of 3 sites at which biopsies were performed. (b, c, d) 20X 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: 150μm.
Figure 2
Figure 2. A novel KRT10 mutation encoding a polyalanine motif causes IWC with white spots resulting from 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 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 (63X) image is included as insert. Primary keratinocytes cultured from a biopsy also demonstrate nucleolar mislocalization of KRT10 that co-stain with fibrillarin, a nucleolar marker (right panel and insert). Scale bars = 100um. (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 change in the logR ratio, indicating copy-neutral LOH.
See this image and copyright information in PMC

References

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