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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase.

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Presentation on theme: "Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase."— Presentation transcript:

1 Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes  Mehrshid Faraji Zonooz, Farahnaz Sabbagh-Kermani, Zohreh Fattahi, Mahsa Fadaee, Mohammad Reza Akbari, Rezvan Amiri, Hassan Vahidnezhad, Jouni Uitto, Hossein Najmabadi, Ariana Kariminejad  Journal of Investigative Dermatology  Volume 136, Issue 6, Pages (June 2016) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 The pedigree and clinical features in the family with hidradenitis suppurativa (HS), acne, and pyoderma gangrenosum (PG). (a) The pedigree is consistent with autosomal dominant inheritance (upper panel). Skin lesions in affected family members include keloid scars in the armpit (b), in the buttocks (c), on the back (d), scarring as a result of fistules (e), HS (acne inversa) with abscesses and fistules in the neck (f), hyperpigmentation and scars symmetrically on the legs (g), hyperpigmentation and scars on the back (h), and scarring as a result of PG (i). The patients consented to publication of these images. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 Whole genome linkage analysis and mutation detection in NCSTN. (a) Whole genome parametric linkage analysis (Merlin software, University of Michigan, Ann Arbor, MI). The top row shows the chromosome number and the vertical rows represent the LOD scores associated with each chromosome. The highest LOD scores (>2) are located on chromosomes 1, 11, and 20 with a prominent genomic interval on chromosome 1. (b) Chromatogram of the heterozygous truncating sequence variant c.1635C>G (p.Tyr545*), detected in NCSTN in an affected individual (top), compared with the wild-type sequence in an unaffected family member (bottom). Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

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