ArticleEuropean journal of human genetics : EJHG2015
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
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- Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.Investigative ophthalmology & visual science · 2026Article
- RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.Nature communications · 2024Article
- DNA methylation patterns in umbilical cord blood from infants of methadone maintained opioid dependent mothers.Scientific reports · 2024Article
- AUTS2 variant in a child diagnosed with autism spectrum disorder and intellectual disability disorder, a case report.Indian journal of psychiatry · 2024Article
- H2A monoubiquitination: insights from human genetics and animal models.Human genetics · 2024Review
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- Identification of Heilongjiang crossbred beef cattle pedigrees and reveals functional genes related to economic traits based on whole-genome SNP data.Frontiers in genetics · 2024Article
- Article
- RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.Epigenomes · 2022Review
- Discovery of 42 genome-wide significant loci associated with dyslexia.Nature genetics · 2022Article
- Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology.Developmental biology · 2022Article
- Integrated microRNA-mRNA Expression Profiling Identifies Novel Targets and Networks Associated with Autism.Journal of personalized medicine · 2022Article
- Article
- Review
- NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.Molecular cell · 2021Article
- Review
- Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.BMC psychiatry · 2021Review
- De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.Human genetics · 2020Article
- A Mouse Mutation That Dysregulates NeighboringG3 (Bethesda, Md.) · 2019Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described. Here we present the full clinical description of two affected men with intragenic AUTS2 variants (one two-base pair deletion in exon 7 and one deletion of exon 6). Both variants are de novo and are predicted to cause a frameshift of the full-length transcript but are unlikely to affect the shorter 3' transcript starting in exon 9. The similarities between the phenotypes of both men are striking and further support that AUTS2 syndrome is a single gene disorder.
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