The ARID1B phenotype: What we have learned so far

Gijs W E Santen, Jill Clayton-Smith, Miho Adachi-Fukuda, Adila AlKindy, Anwar Baban, Katherine Berry, Natalie Canham, Amanda Collins, Krystyna Chrzanowska, Alice Gardham, Denise Horn, Mitsuhiro Kato, Tomoki Kosho, Malgorzata Krajewska-Walasek, Nancy Kramer, Saskia Maas, Isabelle Maystadt, Grazia Mancini, Shane McKee, Jeff MilunskiNoriko Miyake, Seiji Mizuno, Hirofumi Ohashi, Nobuhiko Okamoto, Stephen Robertson, Gabriela Soares, Saori Tanabe, Catherine Vincent-Delorme, Bert de Vries, Dagmar Wieczorek, Louise Wilson

Research output: Contribution to journalArticlepeer-review


Evidence is now accumulating from a number of sequencing studies that ARID1B not only appears to be one of the most frequently mutated intellectual disability (ID) genes, but that the range of phenotypes caused by ARID1B mutations seems to be extremely wide. Thus, it is one of the most interesting ID genes identified so far in the exome sequencing era. In this article, we review the literature surrounding ARID1B and attempt to delineate the ARID1B phenotype. The vast majority of published ARID1B patients have been ascertained through studies of Coffin-Siris syndrome (CSS), which leads to bias when documenting the frequencies of phenotypic features. Additional observations of those individuals ascertained through exome sequencing studies helps in delineation of the broader clinical phenotype. We are currently establishing an ARID1B consortium, aimed at collecting ARID1B patients identified through genome-wide sequencing strategies. We hope that this endeavor will eventually lead to a more comprehensive view of the ARID1B phenotype.

Original languageEnglish
Pages (from-to)276-289
Number of pages14
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number3
Publication statusPublished - 2014


  • ARID1B
  • Coffin-siris syndrome
  • Review

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


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