{"entity": "publication", "iuid": "75eed86d1a72489e8579fbd105541c14", "timestamp": "2026-08-12T05:10:26.219Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/75eed86d1a72489e8579fbd105541c14.json"}, "display": {"href": "https://publications.scilifelab.se/publication/75eed86d1a72489e8579fbd105541c14"}}, "title": "Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.", "authors": [{"family": "Klar", "given": "Joakim", "initials": "J", "orcid": "0000-0003-4185-7409", "researcher": {"href": "https://publications.scilifelab.se/researcher/3310cb2ab70f43d78cc7cd7e36ac8f83.json"}}, {"family": "Raykova", "given": "Doroteya", "initials": "D", "orcid": "0000-0001-6452-2199", "researcher": {"href": "https://publications.scilifelab.se/researcher/0a81c40491e349178167f148f2351875.json"}}, {"family": "Gustafson", "given": "Elisabet", "initials": "E"}, {"family": "T\u00f3thov\u00e1", "given": "Iveta", "initials": "I"}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications.scilifelab.se/researcher/e960811513664a78b2804a00ee70f7c3.json"}}, {"family": "Wanders", "given": "Alkwin", "initials": "A"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}], "type": "journal article", "published": "2015-12-00", "journal": {"volume": "23", "issn": "1476-5438", "issue": "12", "pages": "1679-1683", "title": "Eur. J. Hum. Genet.", "issn-l": "1018-4813"}, "abstract": "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 \u03b3-2, 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.", "doi": "10.1038/ejhg.2015.49", "pmid": "25782675", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (Uppsala Genome Center)": null}, "xrefs": [{"db": "pii", "key": "ejhg201549"}, {"db": "pmc", "key": "PMC4795199"}], "notes": [], "created": "2017-05-02T12:57:23.795Z", "modified": "2021-07-07T14:37:06.508Z"}