Change search
ReferencesLink to record
Permanent link

Direct link
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
Show others and affiliations
2015 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 12, 1679-1683 p.Article in journal (Refereed) Published
Abstract [en]

Familial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11 individuals with a spectrum of visceral symptoms involving the small intestine, colon, biliary tract, urinary tract and uterus. Whole-exome sequencing revealed a novel heterozygous tandem base substitution c.806_807delinsAA (p.(Gly269Glu)) in ACTG2, encoding smooth muscle actin gamma-2, in affected family members. Variants in ACTG2 were recently identified in FVM with intestinal pseudo-obstruction as well as with the congenital megacystics-microcolon-intestinal hypoperistalsis syndrome. In our family, eight affected members presented with severe complications from the biliary and/or the urinary tracts in addition to gastrointestinal pseudo-obstructions. Furthermore, all affected mothers had a history of assisted deliveries owing to poor progress during labor and weak uterine contractions. The variable involvement of multiple smooth muscle-dependent organs in our family, including the biliary tract and the uterus, add to the phenotypic spectrum associated with ACTG2 missense variants.

Place, publisher, year, edition, pages
Nature Publishing Group, 2015. Vol. 23, no 12, 1679-1683 p.
National Category
Basic Medicine Cell and Molecular Biology
URN: urn:nbn:se:umu:diva-110917DOI: 10.1038/ejhg.2015.49ISI: 000365129700015PubMedID: 25782675OAI: diva2:865874
Available from: 2015-10-29 Created: 2015-10-29 Last updated: 2016-03-21Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Wanders, Alkwin
In the same journal
European Journal of Human Genetics
Basic MedicineCell and Molecular Biology

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 19 hits
ReferencesLink to record
Permanent link

Direct link