Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome.
KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the s...
| Publicado en: | Journal of Autism & Developmental Disorders Vol. 55; no. 12; pp. 4337 - 4347 |
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| Autores principales: | , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
Dec2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=189168298&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 189168298 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01623257 AUT jtl: Journal of Autism & Developmental Disorders issn: 01623257 maglogo: N pubinfo: dt: Dec2025 vid: 55 iid: 12 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 189168298 179018443 189168298 189168298 10.1007/s10803-024-06500-5 189168298 ppf: 4337 ppct: 10 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome. aug: au: Ng, Rowena Kalinousky, Allison Harris, Jacqueline affil: https://ror.org/05q6tgt32 Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA sug: subj: Neuropsychological Tests Methods Phenotype Hereditary Diseases Classification Mutation Rare Diseases Familial and Genetic Funding Source Human Male Female Child, Preschool Child Adolescence Adult Descriptive Research Comparative Studies Questionnaires Prospective Studies Child Behavior Checklist Scales Checklists Clinical Assessment Tools Descriptive Statistics Friedman Test Post Hoc Analysis Mann-Whitney U Test Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years Adult: 19-44 years Male Female ab: KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.01 years, SD = 5.46), which was compared to that of a recently published sample of 15 individuals with KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed a neuropsychological test battery to assess non-verbal cognition, and caregivers completed a series of standardized rating inventories to assess daily behavioral functioning. Results reveal those with KAT6B disorders present with severe adaptive deficits (92.3%) and autism-related behaviors (83.3%), juxtaposed with relatively low concerns with externalizing behaviors (7.6%), a pattern shared by the KAT6A group. Those with KAT6B disorders present with high levels of autistic features, including reduced affiliative interest, whereas social motivation is less affected within the KAT6A group. Overall, the levels of impairment in nonverbal cognition and receptive language were comparable among those with KAT6B disorders, a trend also seen in the KAT6A group. In brief, KAT6B and KAT6A disorders yield analogous neuropsychological profiles. Findings implicate common molecular pathophysiological mechanisms for these epigenetic disorders, such that similar therapies may have shared effect across diseases. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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