Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency

The Journal of Dermatology
Tomo SakiyamaYuko Futei

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.

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Citations

May 29, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Kazuo YamadaKen-Ichi Matsumoto
Nov 3, 2016·Journal of the European Academy of Dermatology and Venereology : JEADV·Y KumagaiA Kubo
Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela F BradyFransiska Malfait
Oct 6, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sanne D'hondtFransiska Malfait
Jun 24, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Claire GreenFleur S van Dijk
Apr 28, 2018·The Journal of Dermatology·Ryo TanakaAkiharu Kubo
Mar 7, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Neeti GhaliFleur S van Dijk
Dec 19, 2020·Frontiers in Immunology·Ken-Ichi Matsumoto, Hiroki Aoki
Jan 29, 2021·Frontiers in Immunology·Walter L Miller
May 4, 2021·The Journal of Investigative Dermatology·Satomi AokiAkiharu Kubo
May 8, 2018·Hormone Research in Pædiatrics·Walter L Miller, Deborah P Merke

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