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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion.

Published byJacopo Virginio Damiano Modified over 5 years ago

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Presentation on theme: "Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion."— Presentation transcript:

1 Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin  Elizabeth E. Norgett, Tom W. Lucke, Bill Bowers, Colin S. Munro, Irene M. Leigh, David P. Kelsell  Journal of Investigative Dermatology  Volume 126, Issue 7, Pages (July 2006) DOI: /sj.jid Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Skin and hair phenotypes of patient. Clinical pictures showing the striated keratoderma on (a) palm and (b) sole of the patient and (c, d) the woolly hair phenotype. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Heterozygous 30bp insertion identified in exon 14 of the desmoplakin gene of the patient. (a) Genomic sequence of exon 14 in the patient showing the downstream effect of the 30bp insertion on sequence quality. (b) Sequencing of subcloned exon 14 showing the three boxed nucleotides ATA code for the amino acid isoleucine (I608) on the wild-type allele of the patient, with the 30bp insertion on the mutant allele occurring within this codon. Amino-acid sequence of the wild-type allele (c) and mutant allele (d) with insertion shown in grey. (e) WAVE traces obtained for exon 14 of the desmoplakin gene in the patient (i) compared to wild-type control (ii). This trace was not seen in 80 unrelated controls or in the unaffected mother of the patient. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

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