Publications (3)14.35 Total impact
- The Journal of allergy and clinical immunology 11/2012; · 12.05 Impact Factor
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ABSTRACT: Congenital tufting enteropathy (CTE) is a rare autosomal recessive diarrheal disorder where epithelial tufts can be present from the duodenum to the large intestine. CTE has been linked to mutations in the epithelial cell adhesion molecule gene (EpCAM) Sivagnanam et al. (2008). We recently reported the first case with a nonsense mutation in EpCAM Sivagnanam et al. (2010). Here, we explored the clinical and molecular effects of enterally administered gentamicin in this CTE patient. Altogether, our findings indicate that the therapy employed was insufficient to produce notable read-through induction of the EpCAM premature termination codon. This report highlights the utility of genetic testing not only in respect of diagnostics, prognostics, and family planning, but potential mutation-specific therapeutic considerations as well.Case Reports in Medicine 01/2012; 2012:173195.
- American Journal of Medical Genetics Part A 01/2010; 152A(1):222-4. · 2.30 Impact Factor
Baylor College of Medicine
Houston, Texas, United States
- Department of Pediatrics