ArticleAmerican journal of medical genetics. Part A2022
A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.EBioMedicine · 2026Article
- A genetic model of congenital intestinal atresia implicates Mypt1 in epithelial organisation.Disease models & mechanisms · 2026Article
- Gastrointestinal malrotation and chronic intestinal pseudo-obstruction in two pediatric patients with Baraitser-Winter cerebrofrontofacial syndrome.JPGN reports · 2025Article
- Missense Variant Met119Val inMolecular syndromology · 2025Article
- Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.Journal of clinical medicine · 2024Review
- A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.American journal of medical genetics. Part A · 2022Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The beta-actin gene (ACTB) encodes a ubiquitous cytoskeletal protein, essential for embryonic development in humans. De novo heterozygous missense variants in the ACTB are implicated in causing Baraitser-Winter cerebrofrontofacial syndrome (BWCFFS; MIM#243310). ACTB pathogenic variants are rarely associated with intestinal malformations. We report on a rare case of monozygotic twins presenting with proximal small bowel atresia and hydrops in one, and apple-peel bowel atresia and laryngeal dysgenesis in the other. The twin with hydrops could not be resuscitated. Intensive and surgical care was provided to the surviving twin. Rapid trio genome sequencing identified a de novo missense variant in ACTB (NM_00101.3:c.1043C>T; p.(Ser348Leu)) that guided the care plan. The identical variant subsequently was identified in the demised twin. To characterize the functional effect, the variant was recreated as a pseudoheterozygote in a haploid wild-type S. cerevisiae strain. There was an obvious growth defect of the yACT1
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