title: Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.
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.
authors.affiliation: Division of Dermatology, Ogikubo Hospital, Tokyo, Japan; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tomo
authors.initials: T
authors.lastname: Sakiyama
authors.forename: Akiharu
authors.initials: A
authors.lastname: Kubo
authors.forename: Takashi
authors.initials: T
authors.lastname: Sasaki
authors.forename: Taketo
authors.initials: T
authors.lastname: Yamada
authors.forename: Nobushige
authors.initials: N
authors.lastname: Yabe
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Yuko
authors.initials: Y
authors.lastname: Futei
mesh_terms: D012809:Colon, Sigmoid; D004252:DNA Mutational Analysis; D004378:Duodenal Diseases / Q000209:etiology*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D059472:Exome; D005260:Female; D006801:Humans; D007416:Intestinal Perforation / Q000209:etiology*; D008875:Middle Aged; D012008:Recurrence; D019063:Tenascin / Q000172:deficiency / Q000235:genetics*
chemical_list: D019063:Tenascin; C081865:tenascin X
keywords: Ehlers-Danlos syndrome; customized targeted exome sequencing; gastrointestinal perforation; next-generation sequencer; tenascin-X