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Recurrent gastrointestinal perforation in a patient with Ehlers–Danlos syndrome due to tenascin‐X deficiency
Author(s) -
Sakiyama Tomo,
Kubo Akiharu,
Sasaki Takashi,
Yamada Taketo,
Yabe Nobushige,
Matsumoto Kenichi,
Futei Yuko
Publication year - 2015
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12829
Subject(s) - ehlers–danlos syndrome , medicine , perforation , tenascin , surgery , gastroenterology , materials science , genetics , biology , fibronectin , extracellular matrix , composite material , punching
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 .