Speech and language deficits are central to SETBP1 haploinsufficiency disorder
Angela Morgan, Ruth Braden, Maggie MK Wong, Estelle Colin, David Amor, Frederique Liegeois, Siddharth Srivastava, Adam Vogel, Varoona Bizaoui, Kara Ranguin, Simon E Fisher, Bregje W van Bon
European Journal of Human Genetics | SPRINGERNATURE | Published : 2021
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; 2 years, 28 with pathogenic SETBP1 LoF variants, 3 with 18q12.3 deletions) were assessed for speech, language and literacy abilities. Broader development was examined with standardised motor, social and daily life skills assessments. Gross and fine motor deficits (94%) and intellectu..View full abstract
Awarded by National Health and Medical Research Council (NHMRC) Practitioner Fellowship
Awarded by NHMRC Investigator Grant
Awarded by NHMRC Centre of Research Excellence in Speech and Language Neurobiology
Funding was provided by National Health and Medical Research Council (NHMRC) Practitioner Fellowship #1105008 (AM); NHMRC Investigator Grant #1195955. NHMRC Centre of Research Excellence in Speech and Language Neurobiology #1116976 (AM, DA, SEF); and the Max Planck Society (MMKW, SEF). This work was supported by the Victorian Government's Operational Infrastructure Support Program.