The ARID1B phenotype: What we have learned so far

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 I...

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Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289
Main Authors: Santen, Gijs W.E., Clayton-Smith, Jill
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - etiology
ARID1B
Coffin-Siris syndrome
DNA-Binding Proteins - genetics
Face - abnormalities
Genetic Association Studies
Genetics
Hand Deformities, Congenital - diagnosis
Hand Deformities, Congenital - etiology
Humans
Intellectual Disability - diagnosis
Intellectual Disability - etiology
Micrognathism - diagnosis
Micrognathism - etiology
Mutation
Neck - abnormalities
review
Transcription Factors - genetics
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Summary: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. © 2014 Wiley Periodicals, Inc.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31414