ArticleEuropean journal of human genetics : EJHG2021
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed.
- The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Behavioral and Prefrontal Circuit Deficits in a Newly DevelopedBiological psychiatry global open science · 2026Article
- Understanding speech and language in KIF1A-associated neurological disorder.European journal of human genetics : EJHG · 2026Article
- De novo protein-coding gene variants in developmental stuttering.Molecular psychiatry · 2026Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.Nature communications · 2025Article
- Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.Neurogenetics · 2025Article
- Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.Developmental medicine and child neurology · 2025Article
- Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Investigating Sequence Variations inClinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025Article
- Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant inFrontiers in genetics · 2025Article
- Case Report: Whole-exome sequencing revealed a de novo variant inFrontiers in genetics · 2025Article
- Speech and language classification in the human phenotype ontology.European journal of human genetics : EJHG · 2024Article
- Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing.Scientific reports · 2024Article
- Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.Molecular autism · 2024Article
- Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.Journal of medical genetics · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.Human genomics · 2024Article
- The impact of SETBP1 mutations in neurological diseases and cancer.Genes to cells : devoted to molecular & cellular mechanisms · 2023Review
- CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.European journal of human genetics : EJHG · 2023Article
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Abstract
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 intellectual impairments (68%) were common. Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis. In contrast to past reports, the understanding of language was rarely better preserved than language expression (29%). Language was typically low, to moderately impaired, with commensurate expression and comprehension ability. Children were sociable with a strong desire to communicate. Minimally verbal children (32%) augmented speech with sign language, gestures or digital devices. Overall, relative to general development, spoken language and literacy were poorer than social, daily living, motor and adaptive behaviour skills. Our findings show that poor communication is a central feature of SETBP1 haploinsufficiency disorder, confirming this gene as a strong candidate for speech and language disorders.
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