Key result
Targeted exome sequencing identifies TNXB nonsense mutations in Ehlers-Danlos syndrome with recurrent gastrointestinal perforation.
Why the study?
Ehlers-Danlos syndrome is genetically heterogeneous and can cause recurrent gastrointestinal perforation due to tissue fragility, requiring precise genetic diagnosis.
Case Report (n=1)
Targeted exome sequencing is useful for diagnosing congenital diseases with genetic heterogeneity, such as tenascin-X deficient type Ehlers-Danlos syndrome presenting with gastrointestinal perforation.
Answers are grounded in this paper and cite their sources.
May prompt genetic evaluation in select EDS cases with GI perforation; extends TNXB associations but remains hypothesis-generating.
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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Sakiyama et al. (2015) conducted a case report in Ehlers-Danlos syndrome with recurrent gastrointestinal perforation (n=1). Targeted exome sequencing was evaluated on Identification of genetic mutation. Targeted exome sequencing identified nonsense mutations in TNXB in a patient with Ehlers-Danlos syndrome and recurrent gastrointestinal perforation.
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