A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

doi:10.3390/genes12081275

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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

Genes - 20 Aug 2021

van der Sluijs Pleuntje J, Alders Mariëlle, Dingemans Alexander J M, Parbhoo Kareesma, van Bon Bregje W, Dempsey Jennifer C, Doherty Dan, den Dunnen Johan T, Gerkes Erica H, Milller Ilana M, Moortgat Stephanie, Regier Debra S, Ruivenkamp Claudia A L, Schmalz Betsy, Smol Thomas, Stuurman Kyra E, Vincent-Delorme Catherine, de Vries Bert B A, Sadikovic Bekim, Hickey Scott E, Rosenfeld Jill A, Maystadt Isabelle, Santen Gijs W E

Abstract excerpt

ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines for the interpretation of sequence variants. However, familial loss-of-function variants can also...

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PMID: 34440449
DOI: 10.3390/genes12081275
PMCID: PMC8393241

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