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Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita  Neil J. Wilson, Mónica L. Cárdenas.

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Presentation on theme: "Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita  Neil J. Wilson, Mónica L. Cárdenas."— Presentation transcript:

1 Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita  Neil J. Wilson, Mónica L. Cárdenas Pérez, Anders Vahlquist, Mary E. Schwartz, C. David Hansen, W.H. Irwin McLean, Frances J.D. Smith  Journal of Investigative Dermatology  Volume 132, Issue 7, Pages (July 2012) DOI: /jid Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigree, clinical features, and mutational analysis of KRT17 in Family 1. (a) Pedigree of Family 1. Clinical pictures of proband (IV-5) of Family 1 showing: (b) blistering and keratoderma on the soles of the feet; (c) thickened toenails; (d) region of the scalp showing loss of hair; (e) thickening of all 10 fingernails; (f) extremely thickened fingernail; and (g) follicular keratosis. Clinical pictures IV-4, sister of proband of Family 1 showing: (h) slight thickening of the fingernails with some splinter hemorrhages; (i) steatocysts on the forehead; and (j) thickened toenails. Molecular genetic analysis of KRT17. (k) Normal KRT17 sequence in exon 1 showing nucleotides 271–285. (l) The equivalent region as in (k) from the proband showing homozygous missense transition c.275A>G (arrow) leading to amino-acid substitution p.Asn92Ser. (m) The equivalent region as in (k) from the mother showing heterozygous mutation c.275A>G (arrow) leading to amino-acid substitution p.Asn92Ser. (n) The equivalent region as in (k) from the father showing heterozygous mutation c.275A>G (arrow) leading to amino-acid substitution p.Asn92Ser. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Clinical features and mutational analysis of KRT17 in Family 2. Clinical pictures of proband of Family 2, at age 8, showing (a) thickened toenails and (b) finger nails; (c) painful blisters on the feet; (d) generalized alopecia; (e) plantar keratoderma and blisters; (f) follicular hyperkeratosis on the knees; and (g) follicular hyperkeratosis on the elbow. Molecular genetic analysis of KRT17. (h) Normal KRT17 sequence in exon 1, showing nucleotides 271–285. (i) The equivalent region as in (h) from the proband showing homozygous transition mutation c.280C>T (arrow) leading to amino-acid substitution p.Arg94Cys. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

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