Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
| Autor: | Holla OL; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Bock G; Department of Gastrointestinal Surgery, Telemark Hospital, Skien, Norway., Busk OL; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Isfoss BL; Department of Pathology, Telemark Hospital, Skien, Norway. |
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| Jazyk: | angličtina |
| Zdroj: | Endoscopy [Endoscopy] 2014 Jun; Vol. 46 (6), pp. 533-7. Date of Electronic Publication: 2014 Apr 28. |
| DOI: | 10.1055/s-0034-1365142 |
| Abstrakt: | A 55-year-old woman with a history of bowel dysmotility presented with abdominal distension and peritonitis. Family history included premature deaths with intestinal symptomatology, suggesting autosomal dominant inheritance. Computed tomography showed a distended small bowel. Symptoms were alleviated by enterocutaneous stomas. Initial ileal biopsy suggested neuropathy; however, exome sequencing revealed an Arg148Ser mutation in the enteric smooth muscle actin gamma 2 (ACTG2) gene. Histological reassessment showed abnormal muscularis propria and smooth muscle actin, with the same findings in sibling, confirming familial visceral myopathy. Thus, noninvasive genomic analysis can provide early and specific diagnosis of familial visceral myopathy, which may help to avoid inappropriate surgery. (© Georg Thieme Verlag KG Stuttgart · New York.) |
| Databáze: | MEDLINE |
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