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A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases  Nadja Chmel, Sorina Danescu, Amelie Gruler, Dimitra.

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Presentation on theme: "A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases  Nadja Chmel, Sorina Danescu, Amelie Gruler, Dimitra."— Presentation transcript:

1 A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases  Nadja Chmel, Sorina Danescu, Amelie Gruler, Dimitra Kiritsi, Leena Bruckner-Tuderman, Alexander Kreuter, Jürgen Kohlhase, Cristina Has  Journal of Investigative Dermatology  Volume 135, Issue 11, Pages (November 2015) DOI: /jid Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical and skin morphological findings in patients with genetically unsolved KS. (a) Erosions were present at birth and skin atrophy at the age of 1.5 years in case 1. (b) Cigarette paper-like skin atrophy in case 2 at the age of 4 years. (c) Atrophy on the dorsal aspect of the hand of case 3 at the age of 27. (d) Immunofluorescence staining of the skin demonstrates irregular collagen VII in the patients, in contrast to the linear pattern at the dermal–epidermal junction in the control skin. Note a dermal level of skin cleavage in case 1, whereas in case 3 the split was both intraepidermal and junctional (stars). The arrow points to the nuclei of the basal keratinocytes on the base on the blister. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 The consequences of the deep intronic FERMT1 mutation, IVS9+740G>A. (a) Sequences of FERMT1 exon 5 demonstrating the heterozygous frame shift mutation, c.676delC, in case 1 (arrow). (b) Immunoblot demonstrates the absence of kindlin-1 in keratinocytes lysates from case 1 (C1); Co, control. (c) Agarose gel electrophoresis demonstrating the expected band in the control and of an additional fragment in the patient. M, marker, N, negative control. (d) Analysis of the PCR products revealed the insertion of a part of intron 9 in case 1. (e) Schematic representation of the region spanning FERMT1 exons 9 and 10 (E9, E10). The mutation IVS9+740G>A is depicted in red, as well as the pseudo-exon. (f) Sequencing of intron 9 revealed in all cases the mutation IVS9+740G>A. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

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