Alternate gene names: BAF250B, ELD/OSA1, KIAA1235
Associated syndromes or conditions: Intellectual disability type 12 (formerly called "mental retardation type 12"); Coffin-Siris syndrome
Genomic location: 6q25.3

Diagnoses observed in people with changes in the ARID1B gene:

  • Autism Spectrum Disorder - Yes
  • Intellectual Disability or Developmental Delay - Yes
  • Epilepsy or Seizures - Yes
  • Attention Deficit Hyperactivity Disorder - No
  • Schizophrenia - No
  • Bipolar Disorder - No

Support Resources:


Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunties.

  • TIGER Study: The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in ARID1B.
    Click here to learn more about this opportunity.


Infographic:


Research Article Summaries:
Below, we have summarized several research articles about the ARID1B gene. We hope you find this information helpful.

  • Iglesias et al. (2014) -The usefulness of whole-exome sequencing in routine clinical practice
    In this study, 115 individuals (mostly children, but some adults) were evaluated at Columbia University Medical Center and had whole-exome sequencing to identify the cause of many different types of health problems (ie: birth defects, developmental delay, seizures, hearing loss, behavioral differences, heart problems, etc). Diagnoses were made in 37 cases (32.2%), including one participant who had mutations in the ARID1B gene, not inherited from either parent (de novo).

    This child was identified to have developmental delay, a heart defect called “hypoplastic left heart syndrome,” and incomplete formation of a part of the brain called the “corpus callosum.”

  • Yang et al. (2013) - Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
    In this study, whole exome sequencing was used to search for genetic causes to unexplained developmental delay, intellectual disability, and neurological differences in 250 children. Of these 250 children, about 25% were identified to have a genetic change that explained their diagnosis; including two children with ARID1B mutations. Physical, behavioural, and/or intellectual features of these children were not described.

    Interestingly, for 7 patients (including the 2 patients with mutations ARID1B would not have received a diagnosis if this study had been conducted before 2012, when new research reports became available.

  • Santen et al. (2013)Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
    ARID1B is a gene that plays an important role in early development of the brain as well as regular cellular processes. Damaging variations (mutations) have been found in children with Coffin-Siris syndrome (CSS), as well as in children with an underdeveloped corpus callosum (part of brain) and autism. Most often, children with CSS will have mutations in both copies of their ARID1B genes. In these cases described, only one of the two copies of ARID1B was found to have a mutation.

    In this study, 2,000 children with intellectual disability were screened for genetic mutations that may explain their intellectual disability. In this particular group, 3 children with deletions of part of the ARID1B gene were found. These deletions, or missing pieces, caused a problem with the way the gene was supposed to work, and therefore likely impacted brain development.

    In these 3 children, the mutation was not inherited from either parent (de novo). These children, with deletions of part of one ARID1B gene, had features similar to children with CSS, however, several differences were noted. All 3 children had some degree of intellectual disability, however, no other findings were discussed in this short paper. It was noted that children who have an ARID1B mutation in one gene (rather than two), tend to have typically developing hands and fingers. Children with two mutations in ARID1B tend to have small, or absent, fingernails and toenails.

  • O'Roak et al. (2012) - Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
    In this study, 2,494 samples from the Simon Simplex Collection (SSC) were used to look for 44 genes that have been associated with autism. The SSC study included children with autism and intellectual disability. This study identified 27 de novo gene changes in 16 genes, including 2 patients with a damaging variant (mutation) in the ARID1B gene. This indicates that changes in the DYRK1A gene may be related to autism and/or delays in development.

  • Halgren et al (2012)Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
    This study found that ARID1B is important in human brain development and function in general, in the development of a region of the brain called the “corpus callosum,” and in speech development. The corpus callosum (CC) is the an important part of the brain that works to transfer cognitive, sensory, and motor information between the left and right hemispheres of the brain.

    In that paper, reports of eight individuals with ARID1B mutations were described. Six females and two males were described, and adults were included. All of the mutations described were not inherited from either parent (de novo).

  • Hoyer et al. (2012) - Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
    The German Mental Retardation Network (MRNET) aims to systematically uncover the genetic basis of intellectual disability (ID). Nearly 2,000 individuals were screened for small changes in their chromosomes (called a high-resolution karyotype). One child was found to have a small deletion on chromosome 6. This deletion encompassed 5 genes, and ARID1B was one of them.

    Subsequent research testing in over 800 patients identified ARID1B as a causative gene for intellectual disability, specifically in individuals who have a 6q25.3 deletion. Nine individuals from this group of over 800 children with ID were found to have ARID1B mutations. Below, we summarized the features observed in these German children.

    All nine had some type of developmental delay (for example, some children walked later than average) and were shorter than average. Most had low-muscle tone (hypotonia), speech delay, and subtle differences in their facial features. On occasion, seizures (3/9), congenital heart defects (2/9), hearing loss (1/9), structural brain differences (3/9), and/or cleft palate (1/9) were seen in children with ARID1B mutations.


You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: ARID1B