Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

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Bibliographic Details
Published inBritish journal of dermatology (1951) Vol. 174; no. 2; pp. 444 - 448
Main Authors Schlipf, N.A., Vahlquist, A., Teigen, N., Virtanen, M., Dragomir, A., Fismen, S., Barenboim, M., Manke, T., Rösler, B., Zimmer, A., Fischer, J.
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.02.2016
Oxford University Press
Subjects
Adult
Age of Onset
Child
Dermatitis - genetics
Desmoglein 1 - deficiency
Desmoglein 1 - genetics
Exome
Genes, Recessive
Genome-Wide Association Study
Humans
Hypersensitivity - genetics
Keratoderma, Palmoplantar - genetics
Mutation - genetics
Norway
Pathology
Patologi
Pedigree
Syndrome
Wasting Syndrome - genetics
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Bibliography:ark:/67375/WNG-FC2GQP1L-V
Appendix S1. Background. Appendix S2. Materials and methods. Fig S1. Electron micrographs showing (a) normal desmosomal density in a skin biopsy from an unrelated control case without evidence of skin pathology and (b) reduced desmosomal density in patient III-4 (at age 11 years, nonacral skin biopsy). Fig S2. Electron micrographs showing a normal dermoepidermal junction with preserved anchoring fibrils in (a) the index patient (at age 24 years) and (b) his younger sibling (at age 11 years). Table S1. Desmosomal genodermatoses. Table S2. Variants/mutations identified by exome sequencing. Table S3. Plausible mutations identified by exome sequencing and tested for segregation. Table S4. Primers for all coding exons and exon-intron boundaries of the TRPV3 and MBTPS2 genes.
German Research Foundation - No. FI-1767/3-1
istex:A33ABC9D7D759AC6E3580EEC93BEE2F155B879D6
ArticleID:BJD14079
ISSN:0007-0963
1365-2133
1365-2133
DOI:10.1111/bjd.14079