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Article

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.

European journal of human genetics : EJHG - 1 Aug 2021

Morgan Angela, Braden Ruth, Wong Maggie M K, Colin Estelle, Amor David, Liégeois Frederique, Srivastava Siddharth, Vogel Adam, Bizaoui Varoona, Ranguin Kara, Fisher Simon E, van Bon Bregje W

Abstract excerpt

Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in SETBP1 have also been identified in independent cohorts ascertained for childhood apraxia of speech (CAS), warranting further investigation of the roles of this gene in speech development. Thirty-one participants (12 males, aged 0; 8-23;...

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PMID: 33907317
DOI: 10.1038/s41431-021-00894-x
PMCID: PMC8384874

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