ArticleJournal of human genetics2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.Journal of human genetics · 2020Article
- Clinical and genetic characteristics of patients with Doose syndrome.Epilepsia open · 2020Article
- A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.Annals of clinical and translational neurology · 2020Article
- Article
- Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.Journal of human genetics · 2019Article
- The expanding phenotypes of cohesinopathies: one ring to rule them all!Cell cycle (Georgetown, Tex.) · 2019Review
- Cohesin complex-associated holoprosencephaly.Brain : a journal of neurology · 2019Article
Corrections and comments
- Retraction · 2020-06-15Error in Data · Error in Results and/or Conclusions ·
- Retracted
Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We herein report two individuals with novel nonsense mutations in STAG2 on Xq25, encoding stromal antigen 2, a component of the cohesion complex. A male fetus (Case 1) clinically presented with holoprosencephaly, cleft palate and lip, blepharophimosis, nasal bone absence, and hypolastic left heart by ultrasonography at 15 gestational weeks. Another female patient (Case 2) showed a distinct phenotype with white matter hypoplasia, cleft palate, developmental delay (DD), and intellectual disability (ID) at 7 years. Whole-exome sequencing identified de novo nonsense mutations in STAG2: c.3097C>T, p.(Arg1033*) in Case 1 and c.2229G>A, p.(Trp743*) in Case 2. X-inactivation was highly skewed in Case 2. To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. Although Case 2 showed similar clinical features to the reported female patients with STAG2 abnormalities, Case 1 showed an extremely severe phenotype, which could be explained by the first detected truncating variant in males.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.