ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
22426308 Tsurusaki et al. (2012) performed whole exome sequencing in 23 individuals with Coffin-Siris syndrome, and identified 5 sequencing mutations and one microdeletion of ARID1B. Mutated transcripts subject to nonsense-mediated mRNA decay was illustrated in two patients with ARID1B mutations.
21801163 Halgren et al (2012) identified a de novo balanced translocation t(1;6)(p31;q25) in an individual with hypotonia, dysmorphic features, agenesis of the corpus callosum, intellectual disability, and autism. This translocation interrupted intron 5 of ARID1B at the chromosome 6 breakpoint; the chromosome 1 breakpoint affected no genes. Additionally, Halgren et al report on seven additional patients with intellectual disability who had deletions including the ARID1B gene; in three patients, the deletions were focal and affected only ARID1B.
22405089 Hoyer et al (2012) performed ARID1B mutation analysis on 887 individuals with intellectual disability, and identified 7 de novo missense or frameshift mutations, 1 non-focal deletion, and one duplication of exons 5 and 6 within ARID1B.

Haploinsufficiency phenotype comments:

Point mutations and whole gene deletions of ARID1B have been reported in association with intellectual disability, autism, and dysmorphic features. Some individuals have been reported to have hypotonia, brain anomalies, seizures, deafness, heart defects, post-natal short stature and hypertrichosis. Mutations in ARID1B have also been found in individuals with Coffin-Siris syndrome, which is characterized by intellectual disability, hypertricohosis, coarse facial features, hypoplastic fifth nail, and agenesis of the corpus callosum.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity