Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/137611/1/bjd15417.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/137611/2/bjd15417_am.pd

A new type of pachyonychia congenita.

Item does not contain fulltextWe describe two patients with an apparently unique autosomal dominant ectodermal dysplasia. Symptoms consist of thickening of all nails as seen in pachyonychia congenita and severe generalized hypotrichosis. No other abnormalities were present. Histopathological examination of scalp skin showed a reduction in the number of hair follicles, but other abnormalities were not found. Direct sequencing of the keratins known to be associated with pachyonychia congenita, Krt 6a, 6b, 16 and 17, failed to detect mutations. This suggests that this may be a new type of pachyonychia caused by a mutation in a so-called hard keratin

SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita

RNA interference offers a novel approach for treating genetic disorders including the rare monogenic skin disorder pachyonychia congenita (PC). PC is caused by mutations in keratin 6a (K6a), K6b, K16, and K17 genes, including small deletions and single nucleotide changes. Transfection experiments of a fusion gene consisting of K6a and a yellow fluorescent reporter (YFP) resulted in normal keratin filament formation in transfected cells as assayed by fluorescence microscopy. Similar constructs containing a single nucleotide change (N171K) or a three-nucleotide deletion (N171del) showed keratin aggregate formation. Mutant-specific small inhibitory RNAs (siRNAs) effectively targeted these sites. These studies suggest that siRNAs can discriminate single nucleotide mutations and further suggest that "designer siRNAs" may allow effective treatment of a host of genetic disorders including PC

Novel proline substitution mutations in keratin 16 in two cases of pachyonycia congenita type 1.

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Generation and Characterisation of Keratin 7 (K7) Knockout Mice

10.1371/journal.pone.0064404PLoS ONE85e6440

The gene for hypotrichosis of Marie unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing.

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