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.

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

“…A recent case report on a TNX-deficient type EDS patient with a gastrointestinal bleeding and a literature review on gastrointestinal symptoms (3 diaphragmatic hernias, 3 diverticuloses, 2 bowel perforations, 1 recurrent rectal prolapse and 1 gastrointestinal bleeding in a total cohort of 19 patients) suggests that gastrointestinal involvement is probably to be more prevalent in this EDS type (13). A recent case report on a TNX-deficient type EDS patient with a gastrointestinal bleeding and a literature review on gastrointestinal symptoms (3 diaphragmatic hernias, 3 diverticuloses, 2 bowel perforations, 1 recurrent rectal prolapse and 1 gastrointestinal bleeding in a total cohort of 19 patients) suggests that gastrointestinal involvement is probably to be more prevalent in this EDS type (13).…”

“…After the initial publication, additional cases have been reported, with a focus on specific clinical features, including neuromuscular, genito-urethral, gastrointestinal, and cardiovascular findings (4)(5)(6)(7)(8)(9)(10)(11)(12)(13). So far, of 14 families only 18 patients with TNX-deficiency and two 2 with the contiguous gene syndrome have been reported, 14 of whom from the Netherlands.…”

Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation

“…We obtained written informed consent from her parents according to the guidelines of the institutional review board of the Keio University School of Medicine, and performed nextgeneration sequencing using custom targeted exome sequencing panels of the HaloPlex TM Target Enrichment System (Agilent Technologies, Santa Clara, CA, USA) for genodermatoses. 3 The target resequencing library was constructed from genomic DNA of the lesional epidermis separated from dermis via ex vivo dispase treatment of biopsied specimen. We identified a missense mutation in FGFR2 (NM_000141.4: c.1144T>C [p.C382R]) and several common variations in genes associated with KEN (Table S1).…”

Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPHmutation

“…Genetic analysis was performed as previously described . Briefly, peripheral blood samples were collected and genomic DNA was extracted.…”

“…Genetic analysis was performed as previously described. 6 Briefly, peripheral blood samples were collected and genomic DNA was extracted. Sanger sequencing was performed to detect recurrent mutations of LIPH, c.736T>A (p.C246S) and c.742C>A (p.H248N).…”