Recurrent gastrointestinal perforation in a patient with Ehlers–Danlos syndrome due to tenascin‐X deficiency. Issue 5 (13th March 2015)

• Record Type: Journal Article
• Authors: Sakiyama, Tomo; Kubo, Akiharu; Sasaki, Takashi; Yamada, Taketo; Yabe, Nobushige; Matsumoto, Ken‐ichi; Futei, Yuko
• Is Part Of: Journal of dermatology. Volume 42:Issue 5(2015)
• Page Start: 511
• Page End: 514
• Publication Date: 2015-03-13
• Subjects: customized targeted exome sequencing -- Ehlers–Danlos syndrome -- gastrointestinal perforation -- next‐generation sequencer -- tenascin‐X; Dermatology -- Periodicals; Dermatology -- Japan -- Periodicals; Skin -- Diseases -- Periodicals; 616.5005
• DOI: 10.1111/1346-8138.12829
• Languages: English
• ISSNs: 0385-2407

Abstract

Abstract: Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome‐sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin‐X deficient type EDS.