ArticlePloS one2015
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- Perinatal brain growth and autistic traits in toddlers.Translational psychiatry · 2025Article
- Should We Continue to Tell Autistic People that Their Brains are Different?Psychological reports · 2025Review
- De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.American journal of human genetics · 2024Article
- Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders.Cell genomics · 2023Article
- AKAP8L enhances the stemness and chemoresistance of gastric cancer cells by stabilizing SCD1 mRNA.Cell death & disease · 2022Article
- Identification of Essential, Equivocal and Complex Autism by the Autism Dysmorphology Measure: An Observational Study.Journal of autism and developmental disorders · 2021Observational
- Biophysical properties of AKAP95 protein condensates regulate splicing and tumorigenesis.Nature cell biology · 2020Article
- miR-21 enhances the protective effect of loperamide on rat cardiomyocytes against hypoxia/reoxygenation, reactive oxygen species production and apoptosis via regulating Akap8 and Bard1 expression.Experimental and therapeutic medicine · 2019Article
- Phosphorylation of the neurogenic transcription factor SOX11 on serine 133 modulates neuronal morphogenesis.Scientific reports · 2018Article
- 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.European journal of human genetics : EJHG · 2018Article
- Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.Scientific reports · 2017Article
- AKAP95 interacts with nucleoporin TPR in mitosis and is important for the spindle assembly checkpoint.Cell cycle (Georgetown, Tex.) · 2017Article
- AKAP95 regulates splicing through scaffolding RNAs and RNA processing factors.Nature communications · 2016Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray results from a family with a low functioning autistic child determined that the proband and two additional unaffected family members who carry a rare inherited 760 kb duplication of unknown clinical significance at 19p13.12 are macrocephalic. Consideration alongside overlapping deletion and duplication events in the literature provides support for a strong relationship between gene dosage at this locus and head size, with losses and gains associated with microcephaly (p=1.11x10(-11)) and macrocephaly (p=2.47x10(-11)), respectively. Data support A kinase anchor protein 8 and 8-like (AKAP8 and AKAP8L) as candidate genes involved in regulation of head growth, an interesting finding given previous work implicating the AKAP gene family in autism. Towards determination of which of AKAP8 and AKAP8L may be involved in the modulation of head size and risk for disease, we analyzed exome sequencing data for 693 autism families (2591 individuals) where head circumference data were available. No predicted loss of function variants were observed, precluding insights into relationship to head size, but highlighting strong evolutionary conservation. Taken together, findings support the idea that gene dosage at 19p13.12, and AKAP8 and/or AKAP8L in particular, play an important role in modulation of head size and may contribute to autism risk. Exome sequencing of the family also identified a rare inherited variant predicted to disrupt splicing of TPTE / PTEN2, a PTEN homologue, which may likewise contribute to both macrocephaly and autism risk.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.